ClinVar Miner

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

gnomAD frequency: 0.00658  dbSNP: rs75316802
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.