ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.450G>A (p.Ala150=) (rs78527322)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153594 SCV000203134 benign not specified 2014-04-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153594 SCV000316286 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395692 SCV000441142 likely benign Renal-hepatic-pancreatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303998 SCV000441143 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363764 SCV000441144 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000153594 SCV000518577 benign not specified 2016-08-02 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 RCV000303998 SCV000562268 benign Nephronophthisis 2017-10-14 criteria provided, single submitter clinical testing

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