ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.393+18C>T

gnomAD frequency: 0.00042  dbSNP: rs367765709
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421605 SCV000533873 likely benign not specified 2016-12-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001503089 SCV001707930 likely benign Nephronophthisis 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488967 SCV002803263 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-09-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729595 SCV001978437 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000421605 SCV001978814 benign not specified no assertion criteria provided clinical testing

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