Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701459 | SCV000830260 | likely benign | Tuberous sclerosis 2 | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334351 | SCV002645297 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-18 | criteria provided, single submitter | clinical testing | The p.A1722V variant (also known as c.5165C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5165. The alanine at codon 1722 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002493231 | SCV002798202 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-12-20 | criteria provided, single submitter | clinical testing |