ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5444+719G>A

gnomAD frequency: 0.00009  dbSNP: rs765829807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426482 SCV000520769 likely benign not specified 2017-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000631867 SCV000752965 benign Long QT syndrome 2023-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488911 SCV002804268 likely benign Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2022-05-25 criteria provided, single submitter clinical testing

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