ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.-53C>G

gnomAD frequency: 0.08532  dbSNP: rs12386703
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242469 SCV000304414 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000385256 SCV000470533 benign Peroxisome biogenesis disorder 1A (Zellweger) 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001277065 SCV000754538 benign Zellweger spectrum disorders 2021-12-18 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000242469 SCV000855299 benign not specified 2017-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000385256 SCV001748556 benign Peroxisome biogenesis disorder 1A (Zellweger) 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001706296 SCV001831619 benign not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16088892)
Natera, Inc. RCV001277065 SCV001463800 benign Zellweger spectrum disorders 2020-09-16 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.