Submissions for variant NM_002857.4(PEX19):c.433-11G>T

gnomAD frequency: 0.02551  dbSNP: rs41265791

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000356564	SCV000350077	benign	Peroxisome biogenesis disorder 12A (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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000356564	SCV001720916	benign	Peroxisome biogenesis disorder 12A (Zellweger)	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000676113	SCV001780535	likely benign	not provided	2021-02-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676113	SCV005264287	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676113	SCV000801857	benign	not provided	2017-07-12	no assertion criteria provided	clinical testing