ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) (rs587778471)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121416 SCV000309637 likely benign not specified criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659772 SCV000781624 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121416 SCV000856976 benign not specified 2017-09-25 criteria provided, single submitter clinical testing
ITMI RCV000121416 SCV000085607 not provided not specified 2013-09-19 no assertion provided reference population

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