ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His)

gnomAD frequency: 0.00001  dbSNP: rs772506992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001249846 SCV001423866 uncertain significance Kabuki syndrome 1 criteria provided, single submitter research KMT2D c.6314G>A [p.R2105H] is a missense variant that changes a single amino acid from an arginine to a histidine. This variant has not been previously reported in association with Kabuki syndrome and is of uncertain clinical significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001879766 SCV002213018 benign Kabuki syndrome 2023-03-30 criteria provided, single submitter clinical testing

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