ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=)

gnomAD frequency: 0.00001  dbSNP: rs1160017642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397637 SCV001599395 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-09-27 criteria provided, single submitter clinical testing

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