ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)

gnomAD frequency: 0.00002  dbSNP: rs1481341836
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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 RCV001482707 SCV001687081 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-02-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832628 SCV002091866 likely benign Leber congenital amaurosis 2021-08-02 no assertion criteria provided clinical testing

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