ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1882G>A (p.Gly628Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149160 SCV003836734 likely pathogenic Weaver syndrome 2022-09-30 criteria provided, single submitter clinical testing

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