ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu)

gnomAD frequency: 0.00004  dbSNP: rs730880175
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002498780 SCV002776981 uncertain significance Finnish congenital nephrotic syndrome 2022-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515049 SCV003521984 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516361 SCV003709858 likely benign Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Blueprint Genetics RCV000157401 SCV000207140 uncertain significance Proteinuria 2014-09-15 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.