ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr)

dbSNP: rs2089918301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092779 SCV001249435 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132222 SCV003812592 uncertain significance Kleefstra syndrome 2 2022-10-05 criteria provided, single submitter clinical testing

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