Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868311 | SCV001009623 | likely benign | Carney complex, type 1 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256567 | SCV002534730 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-26 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256567 | SCV002735937 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-27 | 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 |
RCV003918401 | SCV004732539 | likely benign | PRKAR1A-related condition | 2021-02-18 | 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). |