Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685751 | SCV000813248 | likely benign | Tuberous sclerosis 2 | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001023469 | SCV001185353 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-04 | criteria provided, single submitter | clinical testing | The c.5049G>T variant (also known as p.V1683V), located in coding exon 38, results from a G to T substitution at nucleotide position 5049 of the TSC2 gene. This nucleotide substitution does not change the amino acid at codon 1683. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV000685751 | SCV002040247 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |