ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) (rs113364886)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248210 SCV000316285 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000248210 SCV000339422 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV001722363 SCV000619084 likely benign not provided 2020-04-27 criteria provided, single submitter clinical testing
Invitae RCV000542228 SCV000636164 likely benign Nephronophthisis 2020-11-17 criteria provided, single submitter clinical testing

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