Submissions for variant NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)

gnomAD frequency: 0.04986  dbSNP: rs6676290

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000336977	SCV000358664	likely benign	PGM1-congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401429	SCV000358665	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000441537	SCV000520696	benign	not specified	2016-03-04	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	RCV000336977	SCV000649254	benign	PGM1-congenital disorder of glycosylation	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675310	SCV005258530	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675310	SCV000800975	benign	not provided	2017-03-14	no assertion criteria provided	clinical testing