ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=)

gnomAD frequency: 0.00005  dbSNP: rs767026062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710959 SCV000841275 likely benign not provided 2017-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410393 SCV001612439 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000710959 SCV001822322 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing

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