ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6339+10G>C

gnomAD frequency: 0.00019  dbSNP: rs376238265
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439825 SCV000535930 likely benign not specified 2018-03-06 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.
Invitae RCV001082718 SCV001097898 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000951494 SCV001143342 benign not provided 2019-06-11 criteria provided, single submitter clinical testing

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