ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)

gnomAD frequency: 0.00040  dbSNP: rs375237454
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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) RCV000153583 SCV000203121 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV001087673 SCV000253532 likely benign Nephronophthisis 2023-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952751 SCV004784554 likely benign NPHP4-related condition 2019-10-15 criteria provided, single submitter 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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