Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000700174 | SCV000828919 | benign | Tuberous sclerosis 2 | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020551 | SCV001182045 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-02 | 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. |
Baylor Genetics | RCV000700174 | SCV001482867 | uncertain significance | Tuberous sclerosis 2 | 2020-05-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001592895 | SCV001814173 | uncertain significance | not provided | 2023-10-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000700174 | SCV002039764 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001592895 | SCV004184506 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing |