ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.442-11del (rs199511358)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000399962 SCV000381642 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299586 SCV000381643 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356716 SCV000381644 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259517 SCV000381645 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298348 SCV000381646 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001520598 SCV001729731 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-10-29 criteria provided, single submitter clinical testing

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