ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3883-5C>T

gnomAD frequency: 0.00001  dbSNP: rs748652953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456973 SCV001660767 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815555 SCV002063741 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing

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