ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1000-19_1000-17del

dbSNP: rs2129471867
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075531 SCV002373470 likely benign Weaver syndrome 2021-07-29 criteria provided, single submitter clinical testing

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