ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly)

dbSNP: rs797045552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194417 SCV000247265 uncertain significance not specified 2015-07-24 criteria provided, single submitter clinical testing
Invitae RCV001362501 SCV001558521 likely benign Kleefstra syndrome 1 2023-09-15 criteria provided, single submitter clinical testing

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