ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3309+2_3309+3dup

dbSNP: rs886049881
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350463 SCV000381512 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390358 SCV000381513 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315591 SCV000381514 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344468 SCV000381515 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401232 SCV000381516 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing

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