ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)

gnomAD frequency: 0.00002  dbSNP: rs369084322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899161 SCV002173490 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-06 criteria provided, single submitter clinical testing
GeneDx RCV003238877 SCV003936527 uncertain significance not provided 2024-04-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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