ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg)

gnomAD frequency: 0.00014  dbSNP: rs186950965
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000199257 SCV000254519 likely benign Nephronophthisis 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000248910 SCV000303402 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248910 SCV000705856 likely benign not specified 2017-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517296 SCV003543586 uncertain significance Inborn genetic diseases 2021-04-20 criteria provided, single submitter clinical testing The c.2081A>G (p.Q694R) alteration is located in exon 20 (coding exon 20) of the NPHP1 gene. This alteration results from a A to G substitution at nucleotide position 2081, causing the glutamine (Q) at amino acid position 694 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.