ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.149T>C (p.Leu50Ser)

gnomAD frequency: 0.00008  dbSNP: rs775407864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília RCV000204286 SCV000223908 pathogenic Weaver syndrome 2015-04-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000204286 SCV001379577 likely benign Weaver syndrome 2023-08-19 criteria provided, single submitter clinical testing

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