Sema4 (Sema4)
General information
Sema4
Sema4
62 Southfield Ave.
Stamford
Connecticut
United States - 06902
https://sema4.com
Organization ID: 500057
Sema4
62 Southfield Ave.
Stamford
Connecticut
United States - 06902
https://sema4.com
Organization ID: 500057
Personnel
- Ashley Birch, Lab Director
Phone: 800-298-6470
Email: [email protected] - Brent Calder, Informatics staff
Phone: 800-298-6470
Email: [email protected] - Lisa Edelmann, Lab Director
Phone: 800-298-6470
Email: [email protected] - Andrew McLellan, Informatics staff
Phone: 800-298-6470
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11875
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIP | 34 | Apr 25, 2022 |
| ALK | 155 | Apr 25, 2022 |
| AOPEP | 36 | Apr 25, 2022 |
| APC | 462 | Apr 25, 2022 |
| ATM | 615 | Apr 25, 2022 |
| AXIN2 | 205 | Apr 25, 2022 |
| BAP1 | 58 | Apr 25, 2022 |
| BARD1 | 182 | Apr 25, 2022 |
| BIVM-ERCC5 | 72 | Apr 25, 2022 |
| BLM | 126 | Apr 25, 2022 |
| BMPR1A | 79 | Apr 25, 2022 |
| BRCA1 | 453 | Apr 25, 2022 |
| BRCA2 | 715 | Apr 25, 2022 |
| BRIP1 | 203 | Apr 25, 2022 |
| C11orf65 | 214 | Apr 25, 2022 |
| CASR | 14 | Apr 25, 2022 |
| CDC73 | 12 | Apr 25, 2022 |
| CDH1 | 183 | Apr 25, 2022 |
| CDK4 | 15 | Apr 25, 2022 |
| CDKN1B | 40 | Apr 25, 2022 |
| CDKN1C | 37 | Apr 25, 2022 |
| CDKN2A | 56 | Apr 25, 2022 |
| CEBPA | 38 | Apr 25, 2022 |
| CFTR | 71 | Apr 25, 2022 |
| CFTR-AS1 | 10 | Apr 25, 2022 |
| CHEK2 | 162 | Apr 25, 2022 |
| CHURC1-FNTB | 1 | Apr 25, 2022 |
| CPA1 | 15 | Apr 25, 2022 |
| CTC1 | 73 | Apr 25, 2022 |
| CTRC | 6 | Apr 25, 2022 |
| DCTN5 | 1 | Apr 25, 2022 |
| DDB2 | 18 | Apr 25, 2022 |
| DHFR | 44 | Apr 25, 2022 |
| DICER1 | 249 | Apr 25, 2022 |
| DIS3L2 | 48 | Apr 25, 2022 |
| DKC1 | 16 | Apr 25, 2022 |
| DNAH5 | 1 | Nov 26, 2018 |
| DYSF | 1 | Nov 26, 2018 |
| EGFR | 94 | Apr 25, 2022 |
| EGFR-AS1 | 6 | Apr 25, 2022 |
| EPCAM | 5 | Apr 25, 2022 |
| ERCC2 | 66 | Apr 25, 2022 |
| ERCC3 | 51 | Apr 25, 2022 |
| ERCC4 | 51 | Apr 25, 2022 |
| ERCC5 | 72 | Apr 25, 2022 |
| EYS | 2 | Nov 26, 2018 |
| FAM20A | 6 | Apr 25, 2022 |
| FANCA | 162 | Apr 25, 2022 |
| FANCB | 50 | Apr 25, 2022 |
| FANCC | 45 | Apr 25, 2022 |
| FANCD2 | 94 | Apr 25, 2022 |
| FANCD2OS | 23 | Apr 25, 2022 |
| FANCE | 34 | Apr 25, 2022 |
| FANCF | 35 | Apr 25, 2022 |
| FANCG | 33 | Apr 25, 2022 |
| FANCI | 66 | Apr 25, 2022 |
| FANCL | 30 | Apr 25, 2022 |
| FANCM | 94 | Apr 25, 2022 |
| FBXO11 | 1 | Apr 25, 2022 |
| FH | 55 | Apr 25, 2022 |
| FLCN | 73 | Apr 25, 2022 |
| FNTB | 1 | Apr 25, 2022 |
| GATA2 | 37 | Apr 25, 2022 |
| GNE | 3 | Dec 10, 2014 |
| GPC3 | 22 | Apr 25, 2022 |
| GREM1 | 1 | Apr 25, 2022 |
| HEXA | 2 | Nov 28, 2018 |
| HOXB13 | 14 | Apr 25, 2022 |
| HRAS | 18 | Apr 25, 2022 |
| KIT | 28 | Apr 25, 2022 |
| KLLN | 3 | Apr 25, 2022 |
| LOC100506321 | 1 | Apr 25, 2022 |
| LOC100507346 | 31 | Apr 25, 2022 |
| LOC106721785 | 5 | Apr 25, 2022 |
| LOC106736614 | 2 | Apr 25, 2022 |
| LOC107303338 | 68 | Apr 25, 2022 |
| LOC107303340 | 29 | Apr 25, 2022 |
| LOC107982234 | 26 | Apr 25, 2022 |
| LOC110011216 | 13 | Apr 25, 2022 |
| LOC110485084 | 6 | Apr 25, 2022 |
| LOC110806263 | 2 | Apr 25, 2022 |
| LOC110806306 | 1 | Apr 25, 2022 |
| LOC111589215 | 6 | Apr 25, 2022 |
| LOC111589216 | 5 | Apr 25, 2022 |
| LOC111674463 | 4 | Apr 25, 2022 |
| LOC111674472 | 3 | Apr 25, 2022 |
| LOC111674477 | 7 | Apr 25, 2022 |
| LOC111811965 | 3 | Apr 25, 2022 |
| LOC112486223 | 4 | Apr 25, 2022 |
| LOC113633877 | 2 | Apr 25, 2022 |
| LOC113687193 | 1 | Apr 25, 2022 |
| LOC126807437 | 8 | Apr 25, 2022 |
| LOC126860048 | 6 | Apr 25, 2022 |
| LOC126860438 | 4 | Apr 25, 2022 |
| LOC126861205 | 2 | Apr 25, 2022 |
| LOC126861339 | 2 | Apr 25, 2022 |
| LOC126861834 | 8 | Apr 25, 2022 |
| LOC126861966 | 1 | Apr 25, 2022 |
| LOC126862483 | 1 | Apr 25, 2022 |
| LOC126862571 | 58 | Apr 25, 2022 |
| LOC129390903 | 6 | Apr 25, 2022 |
| LOC129929542 | 1 | Apr 25, 2022 |
| LOC129933707 | 2 | Apr 25, 2022 |
| LOC129934333 | 4 | Apr 25, 2022 |
| LOC129936244 | 6 | Apr 25, 2022 |
| LOC129996245 | 8 | Apr 25, 2022 |
| LOC129996521 | 1 | Apr 25, 2022 |
| LOC130001411 | 4 | Apr 25, 2022 |
| LOC130001603 | 8 | Apr 25, 2022 |
| LOC130002133 | 12 | Apr 25, 2022 |
| LOC130004273 | 7 | Apr 25, 2022 |
| LOC130004274 | 1 | Apr 25, 2022 |
| LOC130004614 | 4 | Apr 25, 2022 |
| LOC130005443 | 6 | Apr 25, 2022 |
| LOC130006206 | 7 | Apr 25, 2022 |
| LOC130008148 | 1 | Apr 25, 2022 |
| LOC130009266 | 3 | Apr 25, 2022 |
| LOC130055403 | 3 | Apr 25, 2022 |
| LOC130055524 | 1 | Apr 25, 2022 |
| LOC130055850 | 1 | Apr 25, 2022 |
| LOC130058210 | 2 | Apr 25, 2022 |
| LOC130058543 | 4 | Apr 25, 2022 |
| LOC130059290 | 1 | Apr 25, 2022 |
| LOC130059837 | 8 | Apr 25, 2022 |
| LOC130061310 | 2 | Apr 25, 2022 |
| LOC130062899 | 16 | Apr 25, 2022 |
| LOC130064183 | 2 | Apr 25, 2022 |
| LOC130068886 | 1 | Apr 25, 2022 |
| LOC132090450 | 3 | Apr 25, 2022 |
| LRRC56 | 18 | Apr 25, 2022 |
| MAX | 11 | Apr 25, 2022 |
| MEN1 | 42 | Apr 25, 2022 |
| MET | 93 | Apr 25, 2022 |
| MIR4733HG | 3 | Apr 25, 2022 |
| MITF | 13 | Apr 25, 2022 |
| MLH1 | 174 | Apr 25, 2022 |
| MPZ | 1 | Apr 25, 2022 |
| MRE11 | 48 | Apr 25, 2022 |
| MSH2 | 261 | Apr 25, 2022 |
| MSH3 | 226 | Apr 25, 2022 |
| MSH6 | 372 | Apr 25, 2022 |
| MUTYH | 143 | Apr 25, 2022 |
| NBN | 153 | Apr 25, 2022 |
| NF1 | 362 | Apr 25, 2022 |
| NF2 | 41 | Apr 25, 2022 |
| NHP2 | 8 | Apr 25, 2022 |
| NOP10 | 3 | Apr 25, 2022 |
| NTHL1 | 112 | Apr 25, 2022 |
| OMG | 2 | Apr 25, 2022 |
| OSGIN2 | 1 | Apr 25, 2022 |
| PALB2 | 250 | Apr 25, 2022 |
| PDGFRA | 40 | Apr 25, 2022 |
| PEX6 | 1 | Nov 26, 2018 |
| PFAS | 1 | Apr 25, 2022 |
| PHOX2B | 31 | Apr 25, 2022 |
| PHOX2B-AS1 | 4 | Apr 25, 2022 |
| PMS2 | 253 | Apr 25, 2022 |
| POLD1 | 153 | Apr 25, 2022 |
| POLE | 212 | Apr 25, 2022 |
| POLH | 32 | Apr 25, 2022 |
| POLR1C | 32 | Apr 25, 2022 |
| POT1 | 45 | Apr 25, 2022 |
| PRKAR1A | 25 | Apr 25, 2022 |
| PRSS1 | 23 | Apr 25, 2022 |
| PTCH1 | 176 | Apr 25, 2022 |
| PTEN | 68 | Apr 25, 2022 |
| RAD50 | 90 | Apr 25, 2022 |
| RAD51C | 83 | Apr 25, 2022 |
| RAD51D | 103 | Apr 25, 2022 |
| RAD51L3-RFFL | 103 | Apr 25, 2022 |
| RB1 | 84 | Apr 25, 2022 |
| RECQL4 | 185 | Apr 25, 2022 |
| RET | 123 | Apr 25, 2022 |
| RMND5B | 1 | Apr 25, 2022 |
| RTEL1 | 136 | Apr 25, 2022 |
| RTEL1-TNFRSF6B | 136 | Apr 25, 2022 |
| RUNX1 | 44 | Apr 25, 2022 |
| RUNX1-AS1 | 4 | Apr 25, 2022 |
| SDHA | 85 | Apr 25, 2022 |
| SDHAF2 | 14 | Apr 25, 2022 |
| SDHB | 30 | Apr 25, 2022 |
| SDHC | 22 | Apr 25, 2022 |
| SDHD | 17 | Apr 25, 2022 |
| SLX4 | 140 | Apr 25, 2022 |
| SMAD4 | 66 | Apr 25, 2022 |
| SMARCA4 | 300 | Apr 25, 2022 |
| SMARCB1 | 27 | Apr 25, 2022 |
| SPINK1 | 13 | Apr 25, 2022 |
| STK11 | 140 | Apr 25, 2022 |
| SUFU | 27 | Apr 25, 2022 |
| TERC | 1 | Apr 25, 2022 |
| TERT | 62 | Apr 25, 2022 |
| TH2-LCR | 8 | Apr 25, 2022 |
| TH2LCRR | 14 | Apr 25, 2022 |
| TINF2 | 29 | Apr 25, 2022 |
| TMEM127 | 28 | Apr 25, 2022 |
| TOE1 | 5 | Apr 25, 2022 |
| TP53 | 91 | Apr 25, 2022 |
| TRB | 23 | Apr 25, 2022 |
| TSC1 | 215 | Apr 25, 2022 |
| TSC2 | 569 | Apr 25, 2022 |
| TSPAN31 | 3 | Apr 25, 2022 |
| USH2A | 1 | Nov 26, 2018 |
| VCP | 3 | Apr 25, 2022 |
| VHL | 68 | Apr 25, 2022 |
| VRK1 | 1 | Nov 26, 2018 |
| VRK2 | 9 | Apr 25, 2022 |
| WRAP53 | 1 | Apr 25, 2022 |
| WT1 | 46 | Apr 25, 2022 |
| XPA | 21 | Apr 25, 2022 |
| XPC | 52 | Apr 25, 2022 |
| XRCC2 | 21 | Apr 25, 2022 |
| ZNF276 | 29 | Apr 25, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Nov 26, 2018 |
| Beckwith-Wiedemann syndrome | 37 | Apr 25, 2022 |
| Dyskeratosis congenita | 325 | Apr 25, 2022 |
| Fanconi anemia | 689 | Apr 25, 2022 |
| GNE myopathy | 3 | Dec 10, 2014 |
| Hereditary cancer-predisposing syndrome | 10255 | Apr 25, 2022 |
| Hereditary pancreatitis | 128 | Apr 25, 2022 |
| Nijmegen breakage syndrome-like disorder | 90 | Apr 25, 2022 |
| Perlman syndrome | 48 | Apr 25, 2022 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 1 | Nov 26, 2018 |
| Pontocerebellar hypoplasia type 1A | 1 | Nov 26, 2018 |
| Primary Ciliary Dyskinesia (DNAH5-related) | 1 | Nov 26, 2018 |
| Retinitis pigmentosa 25 | 2 | Nov 26, 2018 |
| Tay-Sachs disease | 2 | Nov 28, 2018 |
| Usher syndrome type 2A | 1 | Nov 26, 2018 |
| Xeroderma pigmentosum | 291 | Apr 25, 2022 |