ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=)

gnomAD frequency: 0.04331  dbSNP: rs61942218
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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) RCV000080101 SCV000111996 benign not specified 2015-07-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080101 SCV000193370 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080101 SCV000309596 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000391105 SCV000636630 benign Kabuki syndrome 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001668196 SCV001885474 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668196 SCV005235747 benign not provided criteria provided, single submitter not provided

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