Submissions for variant NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr)

gnomAD frequency: 0.00713  dbSNP: rs2307298

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV001794515	SCV002070999	benign	not specified	2021-05-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001730401	SCV002821210	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	MBD4: BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV001730401	SCV003247279	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001730401	SCV005257711	likely benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004988713	SCV005617990	benign	Inborn genetic diseases	2024-10-29	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.
Clinical Genetics, Academic Medical Center	RCV001730401	SCV001979281	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001730401	SCV001979875	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001794515	SCV002035267	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003968524	SCV004778662	benign	MBD4-related disorder	2019-02-19	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).