Submissions for variant NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)

dbSNP: rs61752141

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078571	SCV000110427	benign	not specified	2013-05-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078571	SCV000303463	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000408164	SCV000463363	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.
Athena Diagnostics Inc	RCV000992523	SCV001144909	benign	not provided	2018-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV001513556	SCV001721193	benign	Peroxisome biogenesis disorder	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000992523	SCV001770253	likely benign	not provided	2020-04-30	criteria provided, single submitter	clinical testing