ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.162C>G (p.Thr54=)

dbSNP: rs200372336
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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 RCV000499542 SCV000594508 likely benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Invitae RCV001471143 SCV001675245 likely benign Kleefstra syndrome 1 2023-11-24 criteria provided, single submitter clinical testing

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