Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
H3Africa Consortium | RCV001777135 | SCV002014662 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.146, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
Prevention |
RCV003914831 | SCV004734173 | benign | BLK-related condition | 2020-10-12 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000013114 | SCV000033361 | pathogenic | Maturity-onset diabetes of the young type 11 | 2009-08-25 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000013114 | SCV001142379 | benign | Maturity-onset diabetes of the young type 11 | 2020-01-06 | no assertion criteria provided | curation | NC_000008.11:g.11573132C>T has an allele frequency of 0.163 in African subpopulation in the gnomAD database, including 128 homozygous occurrences. This variant was annotated at the position 11,468,050 on chromsome 8. In the functional study by MIN6 beta-cells, this variant decreased luciferase expression as compared with control constructs without any insert (PMID: 19667185). This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2, PS3. |