ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)

gnomAD frequency: 0.00190  dbSNP: rs45567240
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000309036 SCV000338605 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Invitae RCV000960589 SCV001107586 benign Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140188 SCV001300414 uncertain significance Peroxisome biogenesis disorder 7A (Zellweger) 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001547434 SCV001767139 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001547434 SCV002541709 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001547434 SCV004152073 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PEX26: BS2

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.