ClinVar Genomic variation as it relates to human health
NM_033225.6(CSMD1):c.10433G>A (p.Ser3478Asn)
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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
518 | 830 | |
LOC105377785 | - | - | - |
GRCh38 GRCh38 |
- | 210 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CSMD1-related disorder
|
Benign (1) |
|
Mar 5, 2019 | RCV003919741.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024