ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2089-9C>T (rs141397228)

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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 RCV000193710 SCV000248267 likely benign not specified 2015-05-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000193710 SCV000316261 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000193710 SCV000527284 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000535033 SCV000636155 benign Nephronophthisis 2017-11-07 criteria provided, single submitter clinical testing

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