ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1948-8_1948-4del

dbSNP: rs1233925623
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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 RCV001414237 SCV001616367 likely benign Weaver syndrome 2024-09-03 criteria provided, single submitter clinical testing

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