ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1858C>A (p.Arg620=)

dbSNP: rs137852718
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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 RCV000503509 SCV000594513 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000912037 SCV001057122 benign Kleefstra syndrome 1 2025-01-15 criteria provided, single submitter clinical testing

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