ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) (rs116174472)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000303773 SCV000343935 likely benign not specified 2016-07-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310058 SCV000441100 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364771 SCV000441101 uncertain significance Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274968 SCV000441102 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000838628 SCV000759581 benign not provided 2018-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000838628 SCV000980502 likely benign not provided 2018-04-16 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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