ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.8214G>A (p.Arg2738=)

gnomAD frequency: 0.00023  dbSNP: rs138868861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002132276 SCV002406807 benign not provided 2023-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970931 SCV004776413 likely benign KMT2A-related disorder 2023-11-29 criteria provided, single submitter 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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