Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130032 | SCV000184858 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-06-23 | criteria provided, single submitter | clinical testing | The p.A1108V variant (also known as c.3323C>T), located in coding exon 28 of the TSC2 gene, results from a C to T substitution at nucleotide position 3323. The alanine at codon 1108 is replaced by valine, 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. |
Invitae | RCV001087672 | SCV000836431 | likely benign | Tuberous sclerosis 2 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000836828 | SCV000978674 | likely benign | not provided | 2019-05-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001087672 | SCV002039734 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |