Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001531839 | SCV000243678 | likely benign | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15798777) |
Invitae | RCV000533205 | SCV000644373 | benign | Tuberous sclerosis 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574785 | SCV000675649 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-07 | 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- |
RCV000533205 | SCV002039684 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000574785 | SCV002533325 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-25 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000055272 | SCV000083491 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |