Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707631 | SCV000836733 | likely benign | Tuberous sclerosis 2 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013512 | SCV001174106 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-08 | 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- |
RCV000707631 | SCV002039587 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003151740 | SCV003840620 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate decreased TSC2 and TSC1 signals and elevated S6K phosphorylation compared to wild type (Hoogeveen-Westerveld et al., 2011); Reported in one family with tuberous sclerosis in published literature (Au et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21520333, 17304050, 21309039, 32778766) |
Tuberous sclerosis database |
RCV000042864 | SCV000066660 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |