Submissions for variant NM_002633.3(PGM1):c.399T>C (p.Ile133=) (rs1126727)

Minimum review status:		Collection method:
Minimum conflict level:
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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430218	SCV000520692	benign	not specified	2016-02-16	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.
Illumina Clinical Services Laboratory,Illumina	RCV000292719	SCV000358620	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000349872	SCV000358621	likely benign	Congenital disorder of glycosylation type 1t	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000349872	SCV000769545	benign	Congenital disorder of glycosylation type 1t	2017-12-06	criteria provided, single submitter	clinical testing

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