ClinVar Genomic variation as it relates to human health
NM_020717.5(SHROOM4):c.3393_3394insCAGAAGCAACAGGAG (p.Gln1131_Glu1132insGlnLysGlnGlnGlu)
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 | |||
SHROOM4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
229 | 399 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Nov 24, 2014 | RCV004047905.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024