Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465873 | SCV000544450 | likely benign | Tuberous sclerosis 2 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001014932 | SCV001175705 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-14 | criteria provided, single submitter | clinical testing | The c.225+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 2 in the TSC2 gene. This nucleotide position is highly 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. |
Genome- |
RCV000465873 | SCV002041044 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |