Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001969892 | SCV002226286 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003911121 | SCV004721559 | uncertain significance | KMT2A-related disorder | 2023-10-18 | criteria provided, single submitter | clinical testing | The KMT2A c.9176C>T variant is predicted to result in the amino acid substitution p.Pro3059Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.072% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-118375783-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |