ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2388T>G (p.His796Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003754480 SCV004436356 likely benign Kabuki syndrome 2023-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731558 SCV005338664 uncertain significance KMT2D-related disorder 2024-04-04 no assertion criteria provided clinical testing The KMT2D c.2388T>G variant is predicted to result in the amino acid substitution p.His796Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0010% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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