ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.784+9A>G

gnomAD frequency: 0.00004  dbSNP: rs746215285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516732 SCV000612574 likely benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001441336 SCV001644264 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-16 criteria provided, single submitter clinical testing

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