ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14251+18T>C

gnomAD frequency: 0.04121  dbSNP: rs74830946
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080136 SCV000112031 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080136 SCV000193401 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080136 SCV000309605 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522071 SCV001731538 benign Kabuki syndrome 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001594829 SCV001829758 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594829 SCV005235732 benign not provided criteria provided, single submitter not provided

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