ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=)

gnomAD frequency: 0.00001  dbSNP: rs745568685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868420 SCV001009749 likely benign Nephronophthisis 2023-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495282 SCV002798001 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538271 SCV004725111 likely benign NPHP3-related disorder 2021-04-07 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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