ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) (rs16839515)

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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 RCV000082666 SCV000114708 benign not specified 2012-10-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082666 SCV000316266 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311374 SCV000441103 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369792 SCV000441104 likely benign Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261078 SCV000441105 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000082666 SCV000516286 benign not specified 2016-03-15 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 RCV000857385 SCV000562274 benign not provided 2019-02-01 criteria provided, single submitter clinical testing

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