ClinVar Miner

Submissions for variant NM_004456.4(EZH2):c.1459G>A (p.Ala487Thr) (rs201135441)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000120895 SCV000085063 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000383637 SCV000467476 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing

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