ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.9109_9111del (p.Leu3037del)

dbSNP: rs772433974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048736 SCV002310958 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002287525 SCV002577772 uncertain significance See cases 2021-12-15 criteria provided, single submitter clinical testing ACMG categories: PM2,PM4
PreventionGenetics, part of Exact Sciences RCV004538749 SCV004717503 likely benign KMT2C-related disorder 2023-09-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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