ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln)

gnomAD frequency: 0.00109  dbSNP: rs141727765
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146142 SCV000193360 likely benign not specified 2014-01-03 criteria provided, single submitter clinical testing
Invitae RCV000906216 SCV001050839 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000906216 SCV001897031 benign not provided 2019-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505127 SCV002804844 likely benign Wiedemann-Steiner syndrome 2022-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906216 SCV004129396 benign not provided 2022-10-01 criteria provided, single submitter clinical testing KMT2A: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003935248 SCV004755843 likely benign KMT2A-related disorder 2019-05-30 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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