Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528200 | SCV000644656 | likely benign | Tuberous sclerosis 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV003237914 | SCV002011316 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000528200 | SCV002041087 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255451 | SCV002534090 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-18 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255451 | SCV002666741 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-17 | criteria provided, single submitter | clinical testing | The p.A224T variant (also known as c.670G>A), located in coding exon 7 of the TSC2 gene, results from a G to A substitution at nucleotide position 670. The alanine at codon 224 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |