ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.*1C>T

gnomAD frequency: 0.00010  dbSNP: rs376898832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596950 SCV000709274 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735653 SCV005349080 likely benign NPHP1-related disorder 2024-05-01 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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