ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2931A>G (p.Leu977=)

gnomAD frequency: 0.00008  dbSNP: rs146316936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002502545 SCV002807218 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865440 SCV001006404 likely benign Nephronophthisis 2026-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000426559 SCV000526634 likely benign not specified 2016-04-20 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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