ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=)

gnomAD frequency: 0.00005  dbSNP: rs773832706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461556 SCV000562906 likely benign Long QT syndrome 2023-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192660 SCV001360919 benign not specified 2019-11-16 criteria provided, single submitter clinical testing

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