ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)

gnomAD frequency: 0.00005  dbSNP: rs201192584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735154 SCV000863355 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088805 SCV001007254 likely benign Nephronophthisis 2024-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535885 SCV004740233 likely benign NPHP4-related disorder 2019-11-20 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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