ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)

gnomAD frequency: 0.00006  dbSNP: rs556820066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001651 SCV001159166 likely benign not specified 2018-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001422402 SCV001624949 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497320 SCV002809521 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733107 SCV005347895 likely benign CEP290-related disorder 2020-06-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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