ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)

gnomAD frequency: 0.00001  dbSNP: rs754549864
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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) RCV000731895 SCV000859763 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412964 SCV001615064 likely benign Nephronophthisis 2024-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733032 SCV005350454 likely benign NPHP4-related disorder 2024-08-06 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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