ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)

gnomAD frequency: 0.00001  dbSNP: rs1409872235
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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 RCV001467485 SCV001671509 likely benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501618 SCV002809216 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-03-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809625 SCV005436691 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing CEP290: BP4, BP7
Natera, Inc. RCV001832610 SCV002091832 likely benign Leber congenital amaurosis 2021-08-16 no assertion criteria provided clinical testing

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