ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5012+10C>T

gnomAD frequency: 0.00009  dbSNP: rs191369238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862005 SCV001002432 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501207 SCV002813762 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 RCV003908169 SCV004725036 likely benign CEP290-related condition 2020-10-14 criteria provided, single submitter 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).
Natera, Inc. RCV001273063 SCV001455650 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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