Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411821 | SCV000486286 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2016-05-03 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000778219 | SCV000914385 | uncertain significance | Junctional epidermolysis bullosa | 2018-10-25 | criteria provided, single submitter | clinical testing | The LAMB3 c.2011delC (p.Leu671TrpfsTer36) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Leu671TrpfsTer36 variant is classified as a variant of unknown significance but suspicious for pathogenicity for junctional epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Genome- |
RCV000411821 | SCV001653492 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2021-05-18 | criteria provided, single submitter | clinical testing |