ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.539+9C>T

gnomAD frequency: 0.00013  dbSNP: rs369146237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001662384 SCV000523048 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001214068 SCV001385731 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662384 SCV001880190 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing

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