Submissions for variant NM_005609.4(PYGM):c.1092+6dup

gnomAD frequency: 0.00700  dbSNP: rs368602234

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244679	SCV000311161	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401180	SCV000373026	uncertain significance	Glycogen storage disease, type V	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000244679	SCV000566468	benign	not specified	2015-05-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000675639	SCV000700365	uncertain significance	not provided	2017-04-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000401180	SCV000752189	benign	Glycogen storage disease, type V	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000401180	SCV004562199	benign	Glycogen storage disease, type V	2023-08-08	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675639	SCV000801340	likely benign	not provided	2017-04-17	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000401180	SCV001461286	benign	Glycogen storage disease, type V	2020-09-16	no assertion criteria provided	clinical testing