ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=)

gnomAD frequency: 0.00003  dbSNP: rs772768681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762257 SCV000892547 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CACNA1A: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001444552 SCV001647560 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000762257 SCV002015809 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing

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