Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV003412555 | SCV004123238 | uncertain significance | Cohen syndrome | 2023-08-10 | criteria provided, single submitter | clinical testing | The VPS13B c.3767T>G, p.(Met1256Arg) missense variant has been reported in the literature in one individual (PMID: 30792901). This variant has not been observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest that the variant may not impact the gene or gene product. Based on the available evidence, the c.3767T>G, p.(Met1256Arg) variant is classified as a variant of uncertain significance for Cohen syndrome. |