ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu) (rs573192954)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501648 SCV000596048 uncertain significance not specified 2016-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267736 SCV000415881 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315759 SCV000415882 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354240 SCV000415883 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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