Submissions for variant NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)

gnomAD frequency: 0.02086  dbSNP: rs2274516

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249488	SCV000303465	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000534308	SCV000638110	benign	Peroxisome biogenesis disorder	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000676090	SCV000843030	benign	not provided	2018-07-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163367	SCV001325396	benign	Peroxisome biogenesis disorder 4A (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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000676090	SCV001782900	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676090	SCV000801828	benign	not provided	2015-12-15	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001274623	SCV001458948	benign	Zellweger spectrum disorders	2020-09-16	no assertion criteria provided	clinical testing