ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)

gnomAD frequency: 0.00064  dbSNP: rs199557439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085875 SCV000252832 benign Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593510 SCV000703428 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541272 SCV004785278 likely benign NPHP4-related disorder 2019-10-25 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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