ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.4284A>C (p.Ile1428=)

gnomAD frequency: 0.04002  dbSNP: rs9332801
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146138 SCV000193356 benign not specified 2013-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000146138 SCV000307004 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522015 SCV001731476 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001522015 SCV001941082 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522015 SCV005234587 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000146138 SCV001797815 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000146138 SCV001954114 benign not specified no assertion criteria provided clinical testing

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