Submissions for variant NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)

gnomAD frequency: 0.00207  dbSNP: rs146631734

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000438064	SCV000533070	likely benign	not specified	2017-11-01	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.
CeGaT Center for Human Genetics Tuebingen	RCV000659146	SCV000780961	likely benign	not provided	2017-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000612357	SCV001035773	benign	Glycogen storage disease IXa1	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000659146	SCV004563038	likely benign	not provided	2023-08-08	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612357	SCV000734776	likely benign	Glycogen storage disease IXa1		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000659146	SCV001965955	likely benign	not provided		no assertion criteria provided	clinical testing