ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=)

gnomAD frequency: 0.00002  dbSNP: rs760679421
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Minimum conflict level:
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 RCV001477300 SCV001681535 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292641 SCV002585711 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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