ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=)

gnomAD frequency: 0.00002  dbSNP: rs540390772
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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 RCV001465809 SCV001669805 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359038 SCV002659697 likely benign Inborn genetic diseases 2019-10-23 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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