Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551476 | SCV000644618 | likely benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000590906 | SCV000700121 | uncertain significance | Tuberous sclerosis syndrome | 2016-10-01 | criteria provided, single submitter | research | Found in patient having exome sequencing for an unrelated indication. No known history of Tuberous sclerosis complex. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review. |
Ambry Genetics | RCV001023750 | SCV001185668 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-07 | 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- |
RCV000551476 | SCV002041070 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Lab, |
RCV003883156 | SCV004697728 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | criteria provided, single submitter | clinical testing |