ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.864T>A (p.Thr288=) (rs147932449)

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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 RCV000179022 SCV000231211 benign not specified 2014-09-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179022 SCV000316291 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390786 SCV000441136 likely benign Renal-hepatic-pancreatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297073 SCV000441137 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337955 SCV000441138 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000297073 SCV000562267 benign Nephronophthisis 2018-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000179022 SCV000729134 benign not specified 2017-06-18 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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