ClinVar Miner

Submissions for variant NM_153240.4(NPHP3):c.1986G>A (p.Arg662=) (rs77533254)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224082 SCV000280915 benign not provided 2015-09-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082663 SCV000114705 benign not specified 2012-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000082663 SCV000517141 benign not specified 2016-06-01 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.
Illumina Clinical Services Laboratory,Illumina RCV000347219 SCV000441115 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405845 SCV000441116 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312185 SCV000441117 likely benign Renal-hepatic-pancreatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000347219 SCV000562276 benign Nephronophthisis 2017-09-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082663 SCV000316260 benign not specified criteria provided, single submitter clinical testing

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