ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.684A>G (p.Gln228=)

gnomAD frequency: 0.00001  dbSNP: rs1369748544
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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 RCV001480427 SCV001684743 likely benign Nephronophthisis 2022-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495315 SCV002796857 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-11-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530836 SCV004721798 likely benign NPHP3-related disorder 2021-07-09 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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