ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) (rs185660524)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000121372 SCV000613938 benign not specified 2017-06-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659700 SCV000781547 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121372 SCV000112055 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
ITMI RCV000121372 SCV000085554 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000288070 SCV000379304 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121372 SCV000309613 likely benign not specified criteria provided, single submitter clinical testing

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