ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) (rs73302195)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000121429 SCV000193378 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121429 SCV000202910 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Invitae RCV000387772 SCV000636632 benign Kabuki syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001949 SCV001159735 benign Kabuki syndrome 1 2018-09-20 criteria provided, single submitter clinical testing
ITMI RCV000121429 SCV000085621 not provided not specified 2013-09-19 no assertion provided reference population

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