ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) (rs75937132)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601683 SCV000733174 benign Kabuki syndrome 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080098 SCV000111993 benign not specified 2014-04-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080098 SCV000193366 benign not specified 2013-06-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000601683 SCV000743466 likely benign Kabuki syndrome 1 2015-12-16 criteria provided, single submitter clinical testing
ITMI RCV000080098 SCV000085603 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000390546 SCV000379206 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080098 SCV000309593 benign not specified criteria provided, single submitter clinical testing

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