ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) (rs35485382)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203073 SCV000258254 likely benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224078 SCV000281386 benign not provided 2015-06-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000203073 SCV000316281 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350963 SCV000441055 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393358 SCV000441056 likely benign Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311584 SCV000441057 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000203073 SCV000518584 benign not specified 2016-03-22 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 RCV000224078 SCV000562273 benign not provided 2019-03-06 criteria provided, single submitter clinical testing

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