ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2797C>T (p.His933Tyr)

gnomAD frequency: 0.00009  dbSNP: rs148946382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070502 SCV001235750 likely benign Kleefstra syndrome 1 2023-02-19 criteria provided, single submitter clinical testing
GeneDx RCV001560468 SCV001782886 likely benign not provided 2020-01-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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