ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=)

gnomAD frequency: 0.00195  dbSNP: rs200369026
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243270 SCV000309624 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000243270 SCV000613940 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243270 SCV000702131 benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510352 SCV001717367 benign Kabuki syndrome 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001253877 SCV001834892 benign not provided 2019-05-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000243270 SCV002068154 benign not specified 2019-04-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001253877 SCV005213073 likely benign not provided criteria provided, single submitter not provided

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