ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) (rs149278000)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724572 SCV000233141 uncertain significance not provided 2018-07-27 criteria provided, single submitter clinical testing
Invitae RCV000468202 SCV000545120 benign Mental retardation, autosomal dominant 1 2020-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000180662 SCV000617113 likely benign not specified 2017-12-04 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.
Athena Diagnostics Inc RCV000724572 SCV001476679 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing
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

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