ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)

gnomAD frequency: 0.00001  dbSNP: rs776242478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196769 SCV001367402 uncertain significance Kabuki syndrome 1 2018-10-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560225 SCV003441093 benign Kabuki syndrome 2022-07-19 criteria provided, single submitter clinical testing

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