Submissions for variant NM_002633.3(PGM1):c.1500C>T (p.Ile500=)

gnomAD frequency: 0.01523  dbSNP: rs61737416

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000395325	SCV000358662	likely benign	PGM1-congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281994	SCV000358663	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000428999	SCV000517818	benign	not specified	2016-05-11	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	RCV000395325	SCV000769541	benign	PGM1-congenital disorder of glycosylation	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000395325	SCV004563010	benign	PGM1-congenital disorder of glycosylation	2022-12-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675309	SCV005258529	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675309	SCV000800974	benign	not provided	2017-10-16	no assertion criteria provided	clinical testing