ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.687C>T (p.Ala229=)

gnomAD frequency: 0.00004  dbSNP: rs201664704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867094 SCV001008287 likely benign Long QT syndrome 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372433 SCV002667673 likely benign Cardiovascular phenotype 2020-10-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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