ClinVar Genomic variation as it relates to human health
NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1)
Uncertain significance(1); Benign(1)
criteria provided, conflicting classifications
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 | |||
ARID1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1097 | 1272 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Dec 22, 2022 | RCV003091643.2 | |
Uncertain significance (1) |
|
May 15, 2023 | RCV003250755.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024