ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.442-11del

dbSNP: rs199511358
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399962 SCV000381642 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299586 SCV000381643 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356716 SCV000381644 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259517 SCV000381645 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298348 SCV000381646 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520598 SCV001729731 benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000298348 SCV002094936 benign Leber congenital amaurosis 2019-08-29 no assertion criteria provided clinical testing

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