Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547492 | SCV000644595 | likely benign | Tuberous sclerosis 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765259 | SCV000896512 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000547492 | SCV002040552 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341371 | SCV002641447 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-03 | criteria provided, single submitter | clinical testing | The p.W167C variant (also known as c.501G>C), located in coding exon 5 of the TSC2 gene, results from a G to C substitution at nucleotide position 501. The tryptophan at codon 167 is replaced by cysteine, an amino acid with highly 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. |
Baylor Genetics | RCV003470759 | SCV004206854 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-09-04 | criteria provided, single submitter | clinical testing |