Submissions for variant NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)

dbSNP: rs11231866

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081303	SCV000113221	benign	not specified	2014-11-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081303	SCV000311163	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000128547	SCV000373020	benign	Glycogen storage disease, type V	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000128547	SCV000626779	benign	Glycogen storage disease, type V	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000675636	SCV001945679	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
GeneReviews	RCV000128547	SCV000172190	not provided	Glycogen storage disease, type V		no assertion provided	literature only
Mayo Clinic Laboratories, Mayo Clinic	RCV000675636	SCV000801337	benign	not provided	2017-04-17	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000128547	SCV001461282	benign	Glycogen storage disease, type V	2020-09-16	no assertion criteria provided	clinical testing