ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)

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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 RCV002962039 SCV003279710 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-09-04 criteria provided, single submitter clinical testing
GeneDx RCV003443098 SCV004169620 uncertain significance not provided 2023-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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