ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13834A>T (p.Thr4612Ser)

dbSNP: rs747600863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758605 SCV001995590 uncertain significance not provided 2019-09-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003753196 SCV004376891 likely benign Kabuki syndrome 2023-11-15 criteria provided, single submitter clinical testing

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