Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
H3Africa Consortium | RCV001777151 | SCV002014664 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.51, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
Department of Breast and Endocrine Surgery, |
RCV000143990 | SCV000188876 | likely pathogenic | Estrogen resistance syndrome | 2014-03-01 | no assertion criteria provided | research |