ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9765T>C (p.His3255=)

gnomAD frequency: 0.00148  dbSNP: rs146213252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195207 SCV000247780 benign not specified 2017-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000945943 SCV001092019 likely benign Kabuki syndrome 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001610513 SCV001832931 benign not provided 2020-01-31 criteria provided, single submitter clinical testing

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