ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)

gnomAD frequency: 0.00001  dbSNP: rs553665584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087106 SCV000829144 likely benign Nephronophthisis 2024-01-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732297 SCV000860230 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000732297 SCV001991795 uncertain significance not provided 2019-03-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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