ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5528+6A>G

gnomAD frequency: 0.00001  dbSNP: rs762224302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841350 SCV000983312 likely benign not provided 2018-04-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001486935 SCV001691416 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-12-12 criteria provided, single submitter clinical testing

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