Submissions for variant NM_002617.4(PEX10):c.27G>A (p.Pro9=)

gnomAD frequency: 0.00018  dbSNP: rs559431523

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000892006	SCV001035859	likely benign	Peroxisome biogenesis disorder, complementation group 7	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095875	SCV001252052	benign	Peroxisome biogenesis disorder 6A (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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Natera, Inc.	RCV001272171	SCV001453866	uncertain significance	Zellweger spectrum disorders	2020-01-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950397	SCV004762387	likely benign	PEX10-related disorder	2020-12-31	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).