ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)

dbSNP: rs1592139221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853285 SCV000996120 pathogenic Kabuki syndrome 1 2018-03-27 criteria provided, single submitter clinical testing This variant has been previously reported in the literature in an individual diagnosed with Kabuki Syndrome (PMID: 20711175). This variant is considered rare as it has not been reported in publically available population databases. KMT2D is loss of function intolerant and loss of function is a known mechanism for disease in this gene. Based on the combined evidence, the c.6010C>T (p.Gln2004Ter) variant is classified as pathogenic.
Genomic Medicine Lab, University of California San Francisco RCV000853285 SCV001572944 pathogenic Kabuki syndrome 1 2020-04-23 criteria provided, single submitter clinical testing

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