ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=)

dbSNP: rs797045556
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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 RCV000195163 SCV000247280 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003609150 SCV004445807 likely benign Kleefstra syndrome 1 2023-08-24 criteria provided, single submitter clinical testing

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