Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV005249925 | SCV005897471 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-11-25 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 39299233]. This variant is expected to disrupt protein structure [Myriad internal data]. |