Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863398 | SCV001004050 | likely benign | Bloom syndrome | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018289 | SCV001179505 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV003389835 | SCV004130912 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | BLM: PM2:Supporting, BP4, BP7 |
Prevention |
RCV003918350 | SCV004730466 | likely benign | BLM-related condition | 2022-03-11 | 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). |