ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1199-17G>C

gnomAD frequency: 0.00034  dbSNP: rs190836274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608366 SCV000726998 benign not specified 2018-02-05 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 RCV002066563 SCV002463883 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498961 SCV002804428 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-01-05 criteria provided, single submitter clinical testing

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