ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) (rs199547661)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000080223 SCV000613947 benign not specified 2017-01-25 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659769 SCV000781621 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080223 SCV000112118 benign not specified 2014-06-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080223 SCV000193485 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing
ITMI RCV000080223 SCV000085606 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000264206 SCV000379215 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080223 SCV000309635 benign not specified criteria provided, single submitter clinical testing

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