ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=)

gnomAD frequency: 0.00005  dbSNP: rs377466062
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959699 SCV001106619 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001545175 SCV001764453 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing

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