ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.11651C>T (p.Thr3884Met)

gnomAD frequency: 0.00008  dbSNP: rs140246095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262464 SCV001440354 uncertain significance Kleefstra syndrome 2 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880041 SCV002213903 likely benign not provided 2023-09-14 criteria provided, single submitter clinical testing

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