Submissions for variant NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)

gnomAD frequency: 0.00001  dbSNP: rs536900412

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188079	SCV000241683	benign	not specified	2016-06-23	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 Laboratory Services, Illumina	RCV000364648	SCV000416690	uncertain significance	Intellectual Disability, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474532	SCV000557174	benign	Intellectual disability, autosomal dominant 1	2024-01-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000188079	SCV000595701	likely benign	not specified	2017-02-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314731	SCV000849017	benign	Inborn genetic diseases	2017-02-10	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV003884382	SCV004701622	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MBD5: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003927742	SCV004746594	benign	MBD5-related disorder	2019-06-13	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).