ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1516-9C>T

dbSNP: rs201578104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613466 SCV000714402 benign not specified 2017-02-14 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 RCV001516910 SCV001725283 benign Brugada syndrome 2017-04-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712894 SCV005267931 benign not provided criteria provided, single submitter not provided

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