Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV005249849 | SCV005895992 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-12-11 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 37444530, 39299233]. |