ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5940+18C>G

dbSNP: rs1057522421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428422 SCV000527639 likely benign not specified 2016-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Baylor Genetics RCV001336212 SCV001529549 uncertain significance Developmental and epileptic encephalopathy, 42 2018-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002059624 SCV002463963 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-08-15 criteria provided, single submitter clinical testing

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