ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2343T>C (p.Asn781=)

gnomAD frequency: 0.00001  dbSNP: rs748034744
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201605 SCV000256395 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Blueprint Genetics RCV001074504 SCV001240091 uncertain significance Retinal dystrophy 2017-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471584 SCV001675694 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975329 SCV005554819 likely benign Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005003555 SCV005629685 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-05-07 criteria provided, single submitter clinical testing

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