ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.*19_*22del

dbSNP: rs142288119
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243768 SCV000314510 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300901 SCV000381291 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353438 SCV000381292 likely benign Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260946 SCV000381293 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332442 SCV000381294 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385919 SCV000381295 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001640573 SCV001856179 benign not provided 2018-05-10 criteria provided, single submitter clinical testing

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