ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q14.1(chr5:79705427-80237350)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ANKRD34B | - | - |
GRCh38 GRCh37 |
28 | 40 | |
DHFR | - | - |
GRCh38 GRCh37 |
111 | 661 | |
FAM151B | - | - | - |
GRCh38 GRCh37 |
6 | 18 |
MSH3 | - | - |
GRCh38 GRCh37 |
4014 | 4700 | |
MTRNR2L2 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
ZFYVE16 | - | - |
GRCh38 GRCh37 |
84 | 96 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 15, 2018 | RCV001005692.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022