Submissions for variant NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)

gnomAD frequency: 0.00038  dbSNP: rs144957555

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188063	SCV000241667	benign	not specified	2014-11-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086218	SCV000557163	likely benign	Intellectual disability, autosomal dominant 1	2024-12-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000188063	SCV000595705	likely benign	not specified	2015-11-17	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712261	SCV000842707	likely benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314728	SCV000847380	likely benign	Inborn genetic diseases	2016-07-21	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	RCV000712261	SCV001747969	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	MBD5: BP4, BS2