ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1442-7C>T (rs146078470)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153042 SCV000202496 benign not specified 2014-04-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153042 SCV000312362 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368626 SCV000358527 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274055 SCV000358528 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860612 SCV001000719 benign not provided 2019-02-14 criteria provided, single submitter clinical testing

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