ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1653C>T (p.Ala551=)

gnomAD frequency: 0.00004  dbSNP: rs751732786
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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) RCV000731298 SCV000859098 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001469201 SCV001673275 likely benign Nephronophthisis 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540055 SCV004788472 likely benign NPHP4-related disorder 2023-12-21 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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