Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000894829 | SCV001038838 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010193 | SCV001170350 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-04 | 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 |
RCV003884793 | SCV004700148 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | SMARCA4: BP4, BP7 |
Prevention |
RCV003983254 | SCV004800383 | likely benign | SMARCA4-related condition | 2024-01-29 | 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). |