ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4957-15C>T

gnomAD frequency: 0.00016  dbSNP: rs766975739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002074962 SCV002426228 likely benign Long QT syndrome 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500113 SCV002813798 likely benign Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-07-27 criteria provided, single submitter clinical testing

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