ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.372T>C (p.Asp124=)

gnomAD frequency: 0.00003  dbSNP: rs765380980
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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 RCV001470531 SCV001674627 likely benign Weaver syndrome 2025-01-27 criteria provided, single submitter clinical testing

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