Submissions for variant NM_153240.5(NPHP3):c.2693+17A>G

gnomAD frequency: 0.00212  dbSNP: rs200046908

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246028	SCV000316267	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000246028	SCV000516512	likely benign	not specified	2017-10-27	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.
Invitae	RCV001519390	SCV001728253	benign	Nephronophthisis	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002479973	SCV002801694	likely benign	Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome	2021-11-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246028	SCV001918178	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000246028	SCV001929750	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000246028	SCV001964840	benign	not specified		no assertion criteria provided	clinical testing