ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.218G>A (p.Gly73Glu)

gnomAD frequency: 0.00003  dbSNP: rs782233787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000930000 SCV001075641 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000930000 SCV001935042 benign not provided 2020-02-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933163 SCV004753261 likely benign KMT2A-related disorder 2019-05-28 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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