ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=)

gnomAD frequency: 0.00004  dbSNP: rs909344317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704307 SCV000527711 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487201 SCV001691686 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2019-05-02 criteria provided, single submitter clinical testing

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