ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)

gnomAD frequency: 0.00001  dbSNP: rs369675855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424948 SCV000524204 likely benign not specified 2016-02-23 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.
CeGaT Center for Human Genetics Tuebingen RCV000996779 SCV001151697 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001458103 SCV001661918 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-10-05 criteria provided, single submitter clinical testing

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