Submissions for variant NM_002863.5(PYGL):c.1828-2del

dbSNP: rs11356035

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175039	SCV000226465	benign	not specified	2015-04-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175039	SCV000309238	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344617	SCV000386919	benign	Glycogen storage disease, type VI	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000175039	SCV000540142	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: Frequency in ESP (all): 5552/12518=44.35%
Invitae	RCV000344617	SCV001724557	benign	Glycogen storage disease, type VI	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000344617	SCV002033358	benign	Glycogen storage disease, type VI	2021-11-07	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675364	SCV000801030	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing