Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044120 | SCV001207897 | benign | Kabuki syndrome | 2022-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003898049 | SCV004709832 | uncertain significance | KMT2D-related condition | 2023-12-06 | criteria provided, single submitter | clinical testing | The KMT2D c.4903C>T variant is predicted to result in the amino acid substitution p.Leu1635Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |