Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000870085 | SCV001011559 | likely benign | Bloom syndrome | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010588 | SCV001170812 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-14 | 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. |
Prevention |
RCV003895311 | SCV004715558 | likely benign | BLM-related condition | 2023-08-14 | 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). |
Natera, |
RCV000870085 | SCV001456629 | likely benign | Bloom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |