ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=)

gnomAD frequency: 0.00001  dbSNP: rs377183096
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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) RCV000176883 SCV000228641 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089886 SCV005764887 likely benign Nephronophthisis 2024-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539644 SCV004787158 likely benign NPHP4-related disorder 2021-05-12 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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