ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13789C>T (p.Arg4597Cys)

gnomAD frequency: 0.00002  dbSNP: rs543734103
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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 RCV001531691 SCV001746940 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001531691 SCV003282151 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing

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