ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3813-10T>C

gnomAD frequency: 0.00002  dbSNP: rs372263313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001509676 SCV001716512 benign Nephronophthisis 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501744 SCV002803074 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533918 SCV004709657 likely benign NPHP3-related disorder 2024-01-05 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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