Submissions for variant NM_002633.3(PGM1):c.1500C>T (p.Ile500=) (rs61737416)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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.
Illumina Clinical Services Laboratory,Illumina	RCV000395325	SCV000358662	likely benign	Congenital disorder of glycosylation type 1t	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000281994	SCV000358663	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000395325	SCV000769541	benign	Congenital disorder of glycosylation type 1t	2017-11-22	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000675309	SCV000800974	benign	not provided	2017-10-16	no assertion criteria provided	clinical testing

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