ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.274G>A (p.Ala92Thr) (rs770801894)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000370056 SCV000416687 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645258 SCV000767000 likely benign Mental retardation, autosomal dominant 1 2019-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717704 SCV000848562 uncertain significance History of neurodevelopmental disorder 2016-12-20 criteria provided, single submitter clinical testing Insufficient evidence

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