ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:1007540-1254875)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 | |||
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
48 | 174 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 206 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
57 | 181 | |
TRARG1 | - | - |
GRCh38 GRCh37 |
15 | 149 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
- | RCV000520495.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 29, 2022