ClinVar Miner

Submissions for variant NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly)

dbSNP: rs2053293877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Akizu Lab, Children's Hospital Of Philadelphia RCV003294165 SCV004009561 likely pathogenic EZH1-neurodevelopmental syndrome criteria provided, single submitter research
Undiagnosed Diseases Network, NIH RCV001255619 SCV001432150 uncertain significance EZH1-related disorder 2023-07-14 no assertion criteria provided clinical testing

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