ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) (rs143028540)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719425 SCV000850292 likely benign History of neurodevelopmental disorder 2017-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514989 SCV000610602 likely benign not provided 2017-02-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174142 SCV000225388 benign not specified 2014-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000174142 SCV000241712 likely benign not specified 2018-01-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000348720 SCV000416707 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537944 SCV000645799 likely benign Mental retardation, autosomal dominant 1 2017-09-27 criteria provided, single submitter clinical testing

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