ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=)

dbSNP: rs201080304
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001650299 SCV001866307 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001650299 SCV002375718 benign not provided 2024-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001650299 SCV003916534 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CACNA1E: BP4, BP7
Genome-Nilou Lab RCV003458743 SCV004179577 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650299 SCV005282388 benign not provided criteria provided, single submitter not provided

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