ClinVar Genomic variation as it relates to human health
NM_006888.6(CALM1):c.84C>T (p.Ile28=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
CALM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
98 | 163 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 11, 2022 | RCV002447708.2 | |
Likely benign (1) |
|
May 18, 2022 | RCV003103511.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024