Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232656 | SCV000285278 | likely benign | Tuberous sclerosis 2 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564614 | SCV000675704 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-26 | criteria provided, single submitter | clinical testing | The c.2098-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 19 in the TSC2 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV000616624 | SCV000717436 | likely benign | not specified | 2017-03-27 | 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. |
Genome- |
RCV000232656 | SCV002039619 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000564614 | SCV002531035 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-07 | criteria provided, single submitter | curation |