ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=)

gnomAD frequency: 0.00002  dbSNP: rs756711282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835489 SCV000977282 likely benign not provided 2021-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001417035 SCV001619230 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-18 criteria provided, single submitter clinical testing

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