ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=)

gnomAD frequency: 0.00001  dbSNP: rs767743815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314464 SCV000848087 likely benign Inborn genetic diseases 2016-10-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002534547 SCV003201478 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-05-17 criteria provided, single submitter clinical testing

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