ClinVar Genomic variation as it relates to human health
NM_014747.3(RIMS3):c.553C>G (p.Pro185Ala)
Germline
Classification
(1)
Benign
no assertion criteria provided
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 | |||
LOC126805714 | - | - | - | GRCh38 | - | 16 |
RIMS3 | - | - |
GRCh38 GRCh37 |
28 | 54 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
RIMS3-related disorder
|
Benign (1) |
|
May 28, 2019 | RCV003922262.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024