Submissions for variant NM_018328.4(MBD5):c.1382G>A (p.Arg461His) (rs139964770)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188127	SCV000241734	likely benign	not specified	2017-10-10	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.
Invitae	RCV000551392	SCV000645780	likely benign	Mental retardation, autosomal dominant 1	2019-12-31	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000551392	SCV000883219	uncertain significance	Mental retardation, autosomal dominant 1	2018-10-15	criteria provided, single submitter	curation	This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Mental retardation, autosomal dominant 1, autosomal dominant. The following ACMG Tag(s) were applied: BS2-Supporting => BS2 downgraded in strength to supporting.
GenomeConnect, ClinGen	RCV000551392	SCV000681396	not provided	Mental retardation, autosomal dominant 1		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.