ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn)

dbSNP: rs773649403
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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 RCV001209978 SCV001381441 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-11-03 criteria provided, single submitter clinical testing
GeneDx RCV004768922 SCV005379197 uncertain significance not provided 2023-11-07 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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