ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=)

gnomAD frequency: 0.00011  dbSNP: rs745336852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710975 SCV000716337 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710975 SCV000841291 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001433594 SCV001636385 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-23 criteria provided, single submitter clinical testing

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