ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.816G>T (p.Leu272=)

gnomAD frequency: 0.00040  dbSNP: rs144440263
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
Eurofins Ntd Llc (ga) RCV000264178 SCV000344149 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV001087950 SCV001027730 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097466 SCV001253748 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger) 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001833392 SCV002094108 likely benign Zellweger spectrum disorders 2020-12-31 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.