ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) (rs147212187)

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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 RCV000146188 SCV000332813 benign not specified 2015-06-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146188 SCV000193420 likely benign not specified 2013-03-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407813 SCV000379309 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000407813 SCV000759959 benign Kabuki syndrome 2017-12-27 criteria provided, single submitter clinical testing

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