ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5840-7C>T

gnomAD frequency: 0.00014  dbSNP: rs372261381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001452511 SCV001656179 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001555716 SCV001777173 likely benign not provided 2019-08-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664885 SCV001880256 likely benign not specified 2020-11-20 criteria provided, single submitter clinical testing

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