Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719784 | SCV000243548 | likely benign | not provided | 2020-09-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23514105) |
Invitae | RCV000229301 | SCV000285254 | benign | Tuberous sclerosis 2 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012483 | SCV001172940 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-09 | 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- |
RCV000229301 | SCV002041364 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001012483 | SCV002530978 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-17 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002496677 | SCV002808130 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-12-27 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042933 | SCV000066730 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |