Submissions for variant NM_000289.6(PFKM):c.2087G>A (p.Arg696His)

gnomAD frequency: 0.01088  dbSNP: rs41291971

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251357	SCV000303486	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000675441	SCV000518805	benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22133655, 7825568, 22995991, 20981092)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631186	SCV000752199	benign	Glycogen storage disease, type VII	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000631186	SCV000790129	likely benign	Glycogen storage disease, type VII	2017-03-06	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000251357	SCV000858857	likely benign	not specified	2018-01-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000631186	SCV000884300	benign	Glycogen storage disease, type VII	2023-11-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000631186	SCV001268751	likely benign	Glycogen storage disease, type VII	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV000631186	SCV001712287	likely benign	Glycogen storage disease, type VII	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000251357	SCV002103441	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675441	SCV002563118	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	PFKM: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000675441	SCV005213036	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675441	SCV000801121	likely benign	not provided	2018-01-09	no assertion criteria provided	clinical testing