ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln)

dbSNP: rs398123734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080154 SCV000112049 uncertain significance not provided 2015-01-13 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659832 SCV000781695 pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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