ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)

gnomAD frequency: 0.00001  dbSNP: rs370746809
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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 RCV000517699 SCV000612518 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766909 SCV004571817 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-06-24 criteria provided, single submitter clinical testing

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