Submissions for variant NM_005609.4(PYGM):c.2382C>T (p.Asn794=)

dbSNP: rs540487525

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176082	SCV000227679	likely benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328314	SCV000373010	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001721109	SCV000717682	likely benign	not provided	2018-07-20	criteria provided, single submitter	clinical testing
Invitae	RCV000328314	SCV001043718	benign	Glycogen storage disease, type V	2024-01-31	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000328314	SCV001452644	uncertain significance	Glycogen storage disease, type V	2020-01-24	no assertion criteria provided	clinical testing