ClinVar Genomic variation as it relates to human health
NM_020859.4(SHROOM3):c.4616C>T (p.Pro1539Leu)
Germline
Classification
(1)
Likely 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 | |||
SHROOM3 | - | - |
GRCh38 GRCh37 |
19 | 226 | |
SHROOM3-AS1 | - | - | - | GRCh38 | - | 189 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 27, 2023 | RCV004293939.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024