ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13311G>A (p.Thr4437=)

gnomAD frequency: 0.00021  dbSNP: rs149554388
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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 RCV002162574 SCV002419608 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV002222757 SCV002500935 likely pathogenic Tip-toe gait flagged submission clinical testing
PreventionGenetics, part of Exact Sciences RCV004543842 SCV004790438 likely benign KMT2C-related disorder 2022-12-08 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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