ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)

gnomAD frequency: 0.00008  dbSNP: rs375493384
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729922 SCV000857624 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067102 SCV002456369 likely benign Nephronophthisis 2025-01-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700298 SCV001919754 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000729922 SCV001964851 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535830 SCV004738061 likely benign NPHP4-related disorder 2023-05-04 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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