ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) (rs112386774)

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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 RCV000249676 SCV000316271 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249676 SCV000339420 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000549033 SCV000636159 benign Nephronophthisis 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000249676 SCV000721107 likely benign not specified 2017-07-19 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.

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