Submissions for variant NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)

gnomAD frequency: 0.02052  dbSNP: rs17313469

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242827	SCV000303498	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000242827	SCV000518813	benign	not specified	2016-03-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528019	SCV000626791	benign	Glycogen storage disease IXa1	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000675947	SCV004562876	benign	not provided	2023-10-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675947	SCV005274407	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675947	SCV000801676	likely benign	not provided	2017-05-03	no assertion criteria provided	clinical testing