ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)

gnomAD frequency: 0.00012  dbSNP: rs553665584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087106 SCV000829144 likely benign Nephronophthisis 2024-12-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732297 SCV000860230 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000732297 SCV001991795 uncertain significance not provided 2019-03-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004740413 SCV005352242 likely benign NPHP3-related disorder 2024-04-26 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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