ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13671+10dup

dbSNP: rs147210845
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000080131 SCV000247757 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323937 SCV000379170 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659809 SCV000781667 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000323937 SCV001717181 benign Kabuki syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001610365 SCV001833403 benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000080131 SCV000112026 benign not specified 2014-05-02 no assertion criteria provided clinical testing

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