ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1377T>C (p.Ile459=)

gnomAD frequency: 0.00001  dbSNP: rs1353514491
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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 RCV002539956 SCV001012319 likely benign Weaver syndrome 2023-08-04 criteria provided, single submitter clinical testing

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