ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q21(chr6:107446437-108543388)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
NR2E1 | - | - |
GRCh38 GRCh37 |
19 | 44 | |
OSTM1 | - | - |
GRCh38 GRCh37 |
291 | 371 | |
PDSS2 | - | - |
GRCh38 GRCh37 |
225 | 252 | |
SCML4 | - | - | - |
GRCh38 GRCh37 |
24 | 51 |
SEC63 | - | - |
GRCh38 GRCh37 |
445 | 473 | |
SNX3 | - | - |
GRCh38 GRCh37 |
6 | 32 | |
SOBP | - | - |
GRCh38 GRCh37 |
126 | 155 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053607.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022