Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000911386 | SCV001056451 | likely benign | Tuberous sclerosis 2 | 2022-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354744 | SCV002619851 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-16 | criteria provided, single submitter | clinical testing | The c.3834G>A variant (also known as p.L1278L), located in coding exon 31 of the TSC2 gene. This variant results from a G to A substitution at nucleotide position 3834. This nucleotide substitution does not change the leucine at codon 1278. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |