ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1669-17C>T

gnomAD frequency: 0.00001  dbSNP: rs755846938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431878 SCV000531481 likely benign not specified 2016-09-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059907 SCV002489831 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703980 SCV005209548 likely benign not provided criteria provided, single submitter not provided

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