Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703965 | SCV000243664 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327, 22903760, 23514105, 21309039) |
Invitae | RCV000234257 | SCV000285264 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000055529 | SCV000395597 | uncertain significance | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564486 | SCV000675536 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-29 | 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. |
Institute for Clinical Genetics, |
RCV001703965 | SCV002011349 | likely benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000234257 | SCV002039600 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000564486 | SCV002531023 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-22 | criteria provided, single submitter | curation | |
Ce |
RCV001703965 | SCV004010421 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | TSC2: BS3:Supporting, BS1, BS2 |
Tuberous sclerosis database |
RCV000055529 | SCV000083752 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
ITMI | RCV000122212 | SCV000086433 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |