Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988859 | SCV001138751 | benign | Hepatitis C virus, susceptibility to | 2023-08-22 | criteria provided, single submitter | clinical testing | |
H3Africa Consortium | RCV001777139 | SCV002014642 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.051, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
OMIM | RCV000015737 | SCV000036002 | uncertain significance | Cirrhosis, cryptogenic | 2001-05-24 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056936 | SCV000088049 | not provided | not provided | no assertion provided | not provided | ||
Reproductive Health Research and Development, |
RCV000015737 | SCV001142432 | risk factor | Cirrhosis, cryptogenic | 2020-01-06 | no assertion criteria provided | curation | NM_002273.3:c.160T>C in the KRT8 gene has an allele frequency of 0.022 in African subpopulation in the gnomAD database. Two patients with liver disease or noncryptogenic chronic or acute liver disease were found to have this variant (PMID: 11372009). The author proposed that mutations in the keratin 8 gene may predispose people to liver disease (PMID: 11372009; PMID: 12724528). Taken together, we interprete this variant as risk factor variant. |