ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)

gnomAD frequency: 0.00001  dbSNP: rs763004817
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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) RCV000731299 SCV000859099 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078658 SCV001003174 likely benign Nephronophthisis 2024-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535844 SCV004730111 likely benign NPHP1-related disorder 2022-11-02 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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