Submissions for variant NM_000900.5(MGP):c.157A>G (p.Lys53Glu)

gnomAD frequency: 0.00329  dbSNP: rs1801716

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000395553	SCV000339660	benign	not specified	2016-02-16	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000785068	SCV000923623	likely benign	Keutel syndrome	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886013	SCV001029496	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000785068	SCV001268943	benign	Keutel syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000886013	SCV001785196	likely benign	not provided	2024-03-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000886013	SCV004134500	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MGP: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000886013	SCV005215979	likely benign	not provided		criteria provided, single submitter	not provided