Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659780 | SCV000781632 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001466229 | SCV001670229 | likely benign | Kabuki syndrome | 2023-10-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002279478 | SCV002567656 | likely benign | not provided | 2021-10-22 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Prevention |
RCV004544920 | SCV004795684 | uncertain significance | KMT2D-related disorder | 2023-11-29 | criteria provided, single submitter | clinical testing | The KMT2D c.10467G>T variant is predicted to result in the amino acid substitution p.Gln3489His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of South Asian descent in gnomAD, which may be too common for a primary cause of disease. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |