Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163645 | SCV000214215 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-27 | 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. |
Gene |
RCV001704171 | SCV000243616 | likely benign | not provided | 2020-03-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28301460) |
Invitae | RCV000546375 | SCV000644626 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000546375 | SCV002039942 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163645 | SCV002534048 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-04 | criteria provided, single submitter | curation | |
Prevention |
RCV003937492 | SCV004763421 | likely benign | TSC2-related condition | 2021-06-07 | 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). |