Submissions for variant NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)

gnomAD frequency: 0.00658  dbSNP: rs75316802

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000168383	SCV000219074	benign	Nephronophthisis	2024-01-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000176780	SCV000228494	benign	not specified	2014-05-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176780	SCV000316284	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001573185	SCV000518600	benign	not provided	2019-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 12872122, 22995991)
Mendelics	RCV000987335	SCV001136603	benign	Renal-hepatic-pancreatic dysplasia 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987335	SCV001305580	benign	Renal-hepatic-pancreatic dysplasia 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001144956	SCV001305581	benign	Nephronophthisis 3	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001144957	SCV001305582	likely benign	NPHP3-related Meckel-like syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago	RCV000176780	SCV002071004	benign	not specified	2020-10-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498836	SCV002807073	likely benign	Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome	2022-04-16	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573185	SCV005257768	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573185	SCV001798647	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001573185	SCV001925659	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573185	SCV001931377	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573185	SCV001974453	likely benign	not provided		no assertion criteria provided	clinical testing