ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3126-4T>A

gnomAD frequency: 0.00005  dbSNP: rs746873186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001504909 SCV001709796 likely benign Nephronophthisis 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488298 SCV002801091 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540468 SCV004800385 likely benign NPHP3-related disorder 2023-03-14 criteria provided, single submitter 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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