ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)

gnomAD frequency: 0.00014  dbSNP: rs370622537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869283 SCV001010700 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487907 SCV002802197 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271581 SCV001452848 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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