Submissions for variant NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)

gnomAD frequency: 0.00015  dbSNP: rs148321416

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727202	SCV000241737	likely benign	not provided	2021-01-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549124	SCV000645797	benign	Intellectual disability, autosomal dominant 1	2023-12-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727202	SCV000706590	uncertain significance	not provided	2017-03-14	criteria provided, single submitter	clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000678819	SCV000805005	uncertain significance	Bilateral tonic-clonic seizure	2017-04-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727202	SCV004011201	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	MBD5: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003947576	SCV004762420	likely benign	MBD5-related disorder	2021-03-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics	RCV004020277	SCV004902878	likely benign	Inborn genetic diseases	2022-02-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.