Submissions for variant NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)

gnomAD frequency: 0.00585  dbSNP: rs142645936

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117903	SCV000152178	likely benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117903	SCV000342427	benign	not specified	2016-06-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082068	SCV000475111	likely benign	Peroxisome biogenesis disorder 5A (Zellweger)	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000435678	SCV000511862	likely benign	not provided	2016-11-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001082068	SCV001113687	benign	Peroxisome biogenesis disorder 5A (Zellweger)	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000262649	SCV001137647	likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000435678	SCV001155439	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PEX2: BS2
Pars Genome Lab	RCV001082068	SCV001652861	uncertain significance	Peroxisome biogenesis disorder 5A (Zellweger)	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001082068	SCV001805919	likely benign	Peroxisome biogenesis disorder 5A (Zellweger)	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578657	SCV001805920	likely benign	Peroxisome biogenesis disorder 5B	2021-07-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000435678	SCV003800227	likely benign	not provided	2023-06-29	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000435678	SCV001797876	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000435678	SCV001964167	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001835683	SCV002083356	benign	Zellweger spectrum disorders	2019-11-15	no assertion criteria provided	clinical testing