ClinVar Genomic variation as it relates to human health
NM_000388.4(CASR):c.2028G>C (p.Thr676=)
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 | |||
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2725 | 2748 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 24, 2023 | RCV003774603.2 | |
Likely benign (1) |
|
Jun 10, 2020 | RCV004059553.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024