Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460751 | SCV000544392 | likely benign | Tuberous sclerosis 2 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571306 | SCV000675717 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-12 | criteria provided, single submitter | clinical testing | The p.V534G variant (also known as c.1601T>G), located in coding exon 15 of the TSC2 gene, results from a T to G substitution at nucleotide position 1601. The valine at codon 534 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Genome- |
RCV000460751 | SCV002039561 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003470408 | SCV004206903 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-06-16 | criteria provided, single submitter | clinical testing |