ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1179G>T (p.Thr393=)

dbSNP: rs770102474
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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 RCV000867877 SCV001009147 likely benign Weaver syndrome 2024-11-24 criteria provided, single submitter clinical testing

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