ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3989+16A>G

gnomAD frequency: 0.01798  dbSNP: rs149764550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426909 SCV000519203 benign not specified 2016-01-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516095 SCV001724311 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506028 SCV002796278 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-02-03 criteria provided, single submitter clinical testing

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