ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) (rs113445782)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000857453 SCV000260746 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248751 SCV000312390 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205285 SCV000358426 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384533 SCV000358427 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing

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