Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704039 | SCV000243572 | benign | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
Preventiongenetics, |
RCV000122214 | SCV000305187 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000471145 | SCV000556627 | benign | Tuberous sclerosis 2 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002256078 | SCV000850657 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-29 | 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. |
Genome- |
RCV000471145 | SCV002039250 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256078 | SCV002533327 | benign | Hereditary cancer-predisposing syndrome | 2021-06-12 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001704039 | SCV004221423 | uncertain significance | not provided | 2013-09-10 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000122214 | SCV000086435 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |