Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
H3Africa Consortium | RCV001777134 | SCV002014655 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.063, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
Mendelics | RCV001777134 | SCV002519797 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490345 | SCV002795563 | benign | Colorectal cancer | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003974812 | SCV004793252 | likely benign | PTPRJ-related disorder | 2019-10-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000009227 | SCV000029445 | pathogenic | Carcinoma of colon | 2002-07-01 | no assertion criteria provided | literature only |