ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) (rs142021049)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000259061 SCV000114702 likely benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000082660 SCV000280641 uncertain significance not provided 2015-10-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000082660 SCV000562266 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000082660 SCV000976844 likely benign not provided 2018-07-05 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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