ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.921A>G (p.Thr307=)

gnomAD frequency: 0.00001  dbSNP: rs368874413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603824 SCV000726302 likely benign not specified 2018-01-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000868696 SCV001010059 likely benign Nephronophthisis 2024-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498953 SCV002804447 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533232 SCV004712104 likely benign NPHP3-related disorder 2022-06-21 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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