Submissions for variant NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)

gnomAD frequency: 0.00005  dbSNP: rs199530726

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724602	SCV000233142	uncertain significance	not provided	2015-03-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000724602	SCV000589942	likely benign	not provided	2020-02-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000180663	SCV000595707	likely benign	not specified	2016-06-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087689	SCV001009240	benign	Intellectual disability, autosomal dominant 1	2024-10-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362927	SCV002662068	likely benign	Inborn genetic diseases	2018-05-22	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.
PreventionGenetics, part of Exact Sciences	RCV003947541	SCV004759589	likely benign	MBD5-related disorder	2024-01-25	no assertion criteria provided	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).