ClinVar Miner

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

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Total submissions: 4
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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.

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