ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.2111-6T>C

dbSNP: rs1802356752
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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 RCV001393218 SCV001594877 likely benign Weaver syndrome 2022-02-19 criteria provided, single submitter clinical testing

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