ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter)

dbSNP: rs2486102657
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Total submissions: 1
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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 RCV003885420 SCV004698095 likely pathogenic Kleefstra syndrome 2 2024-02-27 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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