Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472588 | SCV000556613 | benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019643 | SCV001181028 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-03 | 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. |
Gene |
RCV001545684 | SCV001765063 | likely benign | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28481359) |
Genome- |
RCV000472588 | SCV002039306 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001019643 | SCV002533379 | benign | Hereditary cancer-predisposing syndrome | 2021-09-16 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002496735 | SCV002804421 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-01-06 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000472588 | SCV004016192 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001545684 | SCV004221430 | uncertain significance | not provided | 2014-08-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000055056 | SCV000083274 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |