ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6751C>T (p.Leu2251=)

dbSNP: rs771211866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003811886 SCV004616080 benign not provided 2023-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542285 SCV004757110 likely benign KMT2C-related disorder 2019-02-26 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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