ClinVar Genomic variation as it relates to human health
NM_015215.4(CAMTA1):c.1240C>T (p.Pro414Ser)
Germline
Classification
(2)
Uncertain significance
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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
602 | 712 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 31, 2023 | RCV003342805.2 | |
Uncertain significance (1) |
|
Feb 1, 2023 | RCV003410358.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024