Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002307005 | SCV002604102 | likely pathogenic | Cockayne syndrome type 1 | 2022-05-08 | criteria provided, single submitter | clinical testing | NM_000082.3(ERCC8):c.274dupA(R92Kfs*5) is expected to be pathogenic in the context of ERCC8-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ERCC8, 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. |