ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.118C>T (p.Leu40=)

gnomAD frequency: 0.00026  dbSNP: rs374281831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595506 SCV000703009 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085782 SCV001004826 likely benign Nephronophthisis 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000595506 SCV002546744 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004543333 SCV004763768 likely benign NPHP3-related disorder 2021-09-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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