ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1369+9C>T (rs146125583)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082217 SCV000114166 benign not specified 2013-10-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082217 SCV000247266 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387937 SCV000478926 likely benign Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859303 SCV000636570 benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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