ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=)

gnomAD frequency: 0.00005  dbSNP: rs745876675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996803 SCV001151731 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002068730 SCV002446688 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-04 criteria provided, single submitter clinical testing

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