ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3534G>A (p.Lys1178=)

dbSNP: rs756488924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459039 SCV001662872 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-10-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883651 SCV004702106 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CEP290: BP4, BP7

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