Submissions for variant NM_001166686.2(PFKM):c.5A>T (p.His2Leu)

gnomAD frequency: 0.21767  dbSNP: rs11609399

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000509231	SCV000977361	benign	not provided	2018-06-14	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001284933	SCV001471032	benign	Glycogen storage disease, type VII	2023-11-30	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001284933	SCV001750023	benign	Glycogen storage disease, type VII	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001284933	SCV002029598	benign	Glycogen storage disease, type VII	2021-09-05	criteria provided, single submitter	clinical testing
GenomeConnect, ClinGen	RCV000509231	SCV000607357	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.