Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163268 | SCV000213796 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-15 | 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. |
Eurofins Ntd Llc |
RCV000724097 | SCV000230124 | uncertain significance | not provided | 2014-08-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082842 | SCV000285324 | benign | Tuberous sclerosis 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000251650 | SCV000305192 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000043438 | SCV000395558 | likely benign | Tuberous sclerosis syndrome | 2019-02-07 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000724097 | SCV000970448 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724097 | SCV001156190 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Genome- |
RCV001082842 | SCV002041052 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163268 | SCV002533360 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-03 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000043438 | SCV000067245 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |