Submissions for variant NM_000466.3(PEX1):c.2584-10del

dbSNP: rs5885806

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000353186	SCV000470507	uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455010	SCV000540014	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 34.4% (31/90) South Asian chromosomes
Eurofins Ntd Llc (ga)	RCV000455010	SCV000700631	likely benign	not specified	2016-11-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522400	SCV001731934	benign	Zellweger spectrum disorders	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001718782	SCV001949318	benign	not provided	2019-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788208	SCV002029562	benign	Heimler syndrome 1	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000353186	SCV002029563	benign	Peroxisome biogenesis disorder 1A (Zellweger)	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788207	SCV002029564	benign	Peroxisome biogenesis disorder 1B	2021-09-05	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV003993941	SCV004812735	benign	Peroxisome biogenesis disorder	2023-06-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000455010	SCV001743127	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000455010	SCV001976342	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001522400	SCV002076855	benign	Zellweger spectrum disorders	2017-05-15	no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000455010	SCV003839828	benign	not specified	2022-08-26	no assertion criteria provided	clinical testing