ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.2983A>G (p.Lys995Glu)

dbSNP: rs2485703513
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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 RCV003883425 SCV004697860 uncertain significance Kleefstra syndrome 2 2024-08-15 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM2_SUP,PP2,PP3,BP1_MOD

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