Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000056559 | SCV000329386 | uncertain significance | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic [(Stenson et al., 2014; other references)]; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20199538, 27884173, 25017986, 31001817, 31589614) |
Illumina Laboratory Services, |
RCV001115027 | SCV001272962 | uncertain significance | Epidermolysis bullosa simplex | 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. |
Centre for Mendelian Genomics, |
RCV001197761 | SCV001368540 | uncertain significance | Epidermolysis bullosa simplex, Koebner type | 2020-02-05 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. |
Baylor Genetics | RCV001332429 | SCV001524757 | uncertain significance | Epidermolysis bullosa simplex 1C, localized | 2019-08-17 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Epithelial Biology; Institute of Medical Biology, |
RCV000056559 | SCV000087670 | not provided | not provided | no assertion provided | not provided |