Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001394617 | SCV001596306 | likely benign | Cohen syndrome | 2023-03-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004728705 | SCV005337837 | uncertain significance | VPS13B-related disorder | 2024-03-30 | no assertion criteria provided | clinical testing | The VPS13B c.8446-8T>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |