Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232604 | SCV000286025 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571046 | SCV000672069 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Fulgent Genetics, |
RCV002503896 | SCV002801014 | likely benign | Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 | 2021-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003919933 | SCV004730140 | likely benign | SMARCA4-related disorder | 2023-11-28 | 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). |