ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=)

gnomAD frequency: 0.00004  dbSNP: rs766231228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002139400 SCV002420462 likely benign Nephronophthisis 2024-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486912 SCV002795009 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-09-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543841 SCV004785575 likely benign NPHP3-related disorder 2022-03-24 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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