ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3570+9G>T

gnomAD frequency: 0.00121  dbSNP: rs112749193
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242754 SCV000316275 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242754 SCV000339425 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000537454 SCV000636161 benign Nephronophthisis 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000242754 SCV000721108 likely benign not specified 2017-07-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294207 SCV002587753 uncertain significance Kidney disorder 2017-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500934 SCV002806708 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-12-05 criteria provided, single submitter clinical testing

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