ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.255G>A (p.Glu85=)

gnomAD frequency: 0.00006  dbSNP: rs146839563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542817 SCV000636156 likely benign Nephronophthisis 2022-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000611134 SCV000725728 likely benign not specified 2017-12-15 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.
Eurofins Ntd Llc (ga) RCV000732995 SCV000861002 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing

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