ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2571-7T>C (rs62292468)

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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 RCV000082665 SCV000114707 benign not specified 2013-04-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082665 SCV000316265 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316186 SCV000441106 likely benign Renal-hepatic-pancreatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375505 SCV000441107 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262364 SCV000441108 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000082665 SCV000516285 benign not specified 2016-02-19 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.
Invitae RCV000375505 SCV000562269 benign Nephronophthisis 2017-08-15 criteria provided, single submitter clinical testing

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