Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721235 | SCV000243646 | likely benign | not provided | 2021-02-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000230966 | SCV000285223 | likely benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568549 | SCV000664612 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-01 | criteria provided, single submitter | clinical testing | The p.E366K variant (also known as c.1096G>A), located in coding exon 10 of the TSC2 gene, results from a G to A substitution at nucleotide position 1096. The glutamic acid at codon 366 is replaced by lysine, 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. |
Illumina Laboratory Services, |
RCV001118951 | SCV001277276 | uncertain significance | Tuberous sclerosis syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Division of Genomic Medicine, |
RCV000230966 | SCV001430720 | uncertain significance | Tuberous sclerosis 2 | 2020-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000230966 | SCV002041129 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |