Submissions for variant NM_002618.4(PEX13):c.893T>C (p.Met298Thr)

gnomAD frequency: 0.00110  dbSNP: rs138545154

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177163	SCV000228995	likely benign	not specified	2017-03-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000981678	SCV001129661	likely benign	Peroxisome biogenesis disorder 11A (Zellweger)	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000981678	SCV001297516	uncertain significance	Peroxisome biogenesis disorder 11A (Zellweger)	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Elsea Laboratory, Baylor College of Medicine	RCV001250088	SCV001424222	uncertain significance	Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B	2020-04-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552990	SCV004740140	likely benign	PEX13-related disorder	2020-02-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).