ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1918T>C (p.Leu640=)

gnomAD frequency: 0.00017  dbSNP: rs541138095
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865634 SCV001006630 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501249 SCV002812409 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-09-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411845 SCV004135545 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CEP290: BP4, BP7
Natera, Inc. RCV001274125 SCV001457921 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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