Submissions for variant NM_000287.4(PEX6):c.1480-5C>T

gnomAD frequency: 0.00126  dbSNP: rs376473597

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078567	SCV000110423	benign	not specified	2016-10-24	criteria provided, single submitter	clinical testing
Invitae	RCV001079412	SCV001027635	benign	Peroxisome biogenesis disorder	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000884269	SCV001144905	benign	not provided	2019-07-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158730	SCV001320384	likely benign	Peroxisome biogenesis disorder 4A (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 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.
Genome-Nilou Lab	RCV001543843	SCV001762718	benign	Heimler syndrome 2	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001158730	SCV001762719	benign	Peroxisome biogenesis disorder 4A (Zellweger)	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543844	SCV001762720	benign	Peroxisome biogenesis disorder 4B	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000884269	SCV001816716	likely benign	not provided	2020-08-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498380	SCV002813069	likely benign	Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2	2022-03-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000884269	SCV004161626	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	PEX6: BP4, BS1, BS2
Natera, Inc.	RCV001276615	SCV001463067	benign	Zellweger spectrum disorders	2020-09-16	no assertion criteria provided	clinical testing