ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q22.31-23(chr15:67172682-68053940)x1
Germline
Classification
(1)
Pathogenic
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 | |||
AAGAB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 115 | |
SMAD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1039 | 1103 | |
C15orf61 | - | - | - |
GRCh38 GRCh37 |
- | 18 |
IQCH | - | - |
GRCh38 GRCh37 |
42 | 85 | |
MAP2K5 | - | - |
GRCh38 GRCh37 |
21 | 37 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 11, 2019 | RCV001006705.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022