ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.100C>A (p.Arg34=)

gnomAD frequency: 0.00001  dbSNP: rs772477320
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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 RCV001506580 SCV001711505 likely benign Weaver syndrome 2022-08-15 criteria provided, single submitter clinical testing

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