Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227729 | SCV001400099 | likely benign | Tuberous sclerosis 1 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575745 | SCV001802800 | uncertain significance | not provided | 2018-10-15 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV001227729 | SCV002040405 | uncertain significance | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429969 | SCV002743281 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-18 | criteria provided, single submitter | clinical testing | The p.M879V variant (also known as c.2635A>G), located in coding exon 19 of the TSC1 gene, results from an A to G substitution at nucleotide position 2635. The methionine at codon 879 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well 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. |
Baylor Genetics | RCV003473792 | SCV004204450 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-08-15 | criteria provided, single submitter | clinical testing |