ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2796C>T (p.His932=)

dbSNP: rs772941423
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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 RCV001456906 SCV001660699 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439080 SCV002747375 likely benign Inborn genetic diseases 2019-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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