ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2789A>C (p.Gln930Pro) (rs564759063)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193640 SCV000247910 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Invitae RCV000689447 SCV000817098 likely benign Mental retardation, autosomal dominant 1 2019-11-20 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000781977 SCV000920432 uncertain significance Seizures 2017-08-25 no assertion criteria provided clinical testing

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