Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001250566 | SCV001425412 | likely pathogenic | Kabuki syndrome 1 | 2020-05-26 | criteria provided, single submitter | clinical testing | This variant in KMT2D is absent from a large population dataset and has not been previously reported in the academic literature or ClinVar to our knowledge. This frameshift variant results in a premature stop codon in exon 9 of 54 likely leading to nonsense?mediated decay and lack of protein production. We consider c.1223_1229dupAACCAGG to be likely pathogenic. |