ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6527-16C>T

gnomAD frequency: 0.00007  dbSNP: rs752985059
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430727 SCV000519361 likely benign not specified 2016-03-01 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 RCV002064957 SCV002453606 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480295 SCV002798388 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-08-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430727 SCV005395694 likely benign not specified 2024-09-05 criteria provided, single submitter clinical testing

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