ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q11.23-21.1(chr10:52082714-53320354)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
A1CF | - | - |
GRCh38 GRCh37 |
29 | 49 | |
ASAH2B | - | - |
GRCh38 GRCh37 |
5 | 26 | |
PRKG1 | - | - |
GRCh38 GRCh37 |
713 | 792 | |
SGMS1 | - | - |
GRCh38 GRCh37 |
12 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 26, 2018 | RCV000848525.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022