ClinVar Genomic variation as it relates to human health
NM_003070.5(SMARCA2):c.1224G>A (p.Thr408=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1146 | 1319 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 23, 2018 | RCV002364128.2 | |
Likely benign (1) |
|
Sep 5, 2019 | RCV003971264.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024