Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189950 | SCV000243617 | likely benign | not specified | 2016-09-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000989442 | SCV000544559 | benign | Tuberous sclerosis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491612 | SCV000579582 | benign | Hereditary cancer-predisposing syndrome | 2021-08-17 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Mendelics | RCV000989442 | SCV001139768 | benign | Tuberous sclerosis 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000989442 | SCV002040295 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000491612 | SCV002534065 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-27 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000043208 | SCV000067009 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
CSER _CC_NCGL, |
RCV000043208 | SCV000190673 | uncertain significance | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |