ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q11.23(chr10:51753154-52166339)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 | |||
AGAP6 | - | - | - |
GRCh38 GRCh37 |
- | 126 |
ASAH2 | - | - |
GRCh38 GRCh37 |
15 | 51 | |
SGMS1 | - | - |
GRCh38 GRCh37 |
12 | 51 | |
WASHC2A | - | - | - |
GRCh38 GRCh37 |
53 | 106 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 2, 2019 | RCV001260094.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022