Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002310346 | SCV002602330 | likely pathogenic | Cohen syndrome | 2022-02-17 | criteria provided, single submitter | clinical testing | NM_017890.4(VPS13B):c.4631T>A(L1544*) is expected to be pathogenic in the context of Cohen syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in VPS13B, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |