Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002309610 | SCV002603487 | likely pathogenic | Cockayne syndrome type 1 | 2022-02-07 | criteria provided, single submitter | clinical testing | NM_000082.3(ERCC8):c.559C>T(Q187*) 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. |