ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1905T>C (p.Asp635=)

gnomAD frequency: 0.00002  dbSNP: rs372010918
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864862 SCV001005729 likely benign Weaver syndrome 2024-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884753 SCV004700168 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing EZH2: BP4, BP7

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