Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545574 | SCV000644480 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367880 | SCV002624857 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-03 | 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 |
RCV003915575 | SCV004730480 | likely benign | TSC2-related condition | 2023-04-27 | 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). |