ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=)

gnomAD frequency: 0.00030  dbSNP: rs587783721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146217 SCV000193456 likely benign not specified 2014-03-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000146217 SCV000340002 likely benign not specified 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000875662 SCV001018119 benign Kabuki syndrome 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531785 SCV001747066 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7
GeneDx RCV001531785 SCV001942684 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing

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