ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)

gnomAD frequency: 0.00003  dbSNP: rs1268938831
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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 RCV000688501 SCV000816116 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001592872 SCV001825064 uncertain significance not provided 2022-10-28 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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