Submissions for variant NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)

gnomAD frequency: 0.00004  dbSNP: rs568826753

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724600	SCV000233140	uncertain significance	not provided	2015-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000724600	SCV000241676	likely benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086087	SCV000545118	benign	Intellectual disability, autosomal dominant 1	2024-12-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000188072	SCV000595708	likely benign	not specified	2017-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516826	SCV003685924	likely benign	Inborn genetic diseases	2021-07-08	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724600	SCV004701843	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MBD5: BP4, BS2