ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)

gnomAD frequency: 0.00048  dbSNP: rs200104274
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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) RCV000728888 SCV000856509 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054348 SCV002444657 likely benign Nephronophthisis 2024-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530186 SCV004711571 likely benign NPHP4-related disorder 2022-04-27 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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