ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.783T>C (p.Thr261=)

gnomAD frequency: 0.00001  dbSNP: rs1043194235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588110 SCV001823474 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588751 SCV004271489 likely benign Kabuki syndrome 2023-05-23 criteria provided, single submitter clinical testing

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