Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382674 | SCV001581570 | pathogenic | Kabuki syndrome | 2020-03-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has been observed in individual(s) with Kabuki syndrome (PMID: 21671394). ClinVar contains an entry for this variant (Variation ID: 635179). This sequence change creates a premature translational stop signal (p.Gln3683*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. |
Genome Sciences Centre, |
RCV000786035 | SCV000924576 | likely pathogenic | Cavernous sinus meningioma | 2019-05-21 | no assertion criteria provided | research |