ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1240+10G>A

gnomAD frequency: 0.00021  dbSNP: rs374888907
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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 RCV001407257 SCV001609224 likely benign Weaver syndrome 2024-09-24 criteria provided, single submitter clinical testing

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