ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1624-5T>G

dbSNP: rs142742071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064972 SCV001229910 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-21 criteria provided, single submitter clinical testing
New York Genome Center RCV002468139 SCV002764591 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 2021-04-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827420 SCV002094325 uncertain significance Leber congenital amaurosis 2021-05-18 no assertion criteria provided clinical testing

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