ClinVar Genomic variation as it relates to human health
NM_001649.4(SHROOM2):c.3489G>A (p.Thr1163=)
Germline
Classification
(1)
Benign
criteria provided, single submitter
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 | |||
SHROOM2 | - | - |
GRCh38 GRCh37 |
161 | 344 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SHROOM2-related disorder
|
Benign (1) |
|
May 22, 2019 | RCV003914579.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024