Submissions for variant NM_002633.3(PGM1):c.1145-7C>G

gnomAD frequency: 0.04055  dbSNP: rs72922609

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000297943	SCV000358646	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356985	SCV000358647	likely benign	PGM1-congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000417895	SCV000517817	benign	not specified	2016-03-15	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	RCV000356985	SCV000649252	benign	PGM1-congenital disorder of glycosylation	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675305	SCV005258526	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675305	SCV000800970	benign	not provided	2017-03-14	no assertion criteria provided	clinical testing