Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639931 | SCV000761517 | likely benign | not provided | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018851 | SCV001180138 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-12 | 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. |
ARUP Laboratories, |
RCV000639931 | SCV001471784 | uncertain significance | not provided | 2020-03-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965347 | SCV004779733 | likely benign | SMARCB1-related condition | 2019-09-03 | 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). |