Submissions for variant NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)

gnomAD frequency: 0.00020  dbSNP: rs149278000

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724572	SCV000233141	uncertain significance	not provided	2018-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468202	SCV000545120	benign	Intellectual disability, autosomal dominant 1	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000724572	SCV000617113	benign	not provided	2019-12-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000724572	SCV001476679	likely benign	not provided	2020-04-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724572	SCV002063897	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	MBD5: BS2
Ambry Genetics	RCV002354466	SCV002657145	likely benign	Inborn genetic diseases	2022-12-19	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.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000678818	SCV000805004	uncertain significance	developmental delay with intractable seizures	2016-11-14	no assertion criteria provided	clinical testing