ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2250C>T (p.Asp750=)

dbSNP: rs201090359
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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) RCV000593602 SCV000709052 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080629 SCV001004403 likely benign Nephronophthisis 2024-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530721 SCV004751573 likely benign NPHP4-related disorder 2019-06-05 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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