ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.2(chr15:49656531-50165554)x3
Germline
Classification
(1)
Likely benign
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 | |||
ATP8B4 | - | - |
GRCh38 GRCh37 |
76 | 105 | |
DTWD1 | - | - | - |
GRCh38 GRCh37 |
8 | 36 |
FAM227B | - | - | - |
GRCh38 GRCh37 |
24 | 70 |
FGF7 | - | - |
GRCh38 GRCh37 |
- | 32 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Jun 22, 2015 | RCV000512119.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024