ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)

dbSNP: rs193922616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001841523 SCV000052073 likely pathogenic Cardiac arrhythmia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000170764 SCV000223319 likely benign not specified 2013-04-10 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.
Invitae RCV001852586 SCV002127483 uncertain significance Long QT syndrome 2021-09-01 criteria provided, single submitter clinical testing

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