Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000117981 | SCV000269703 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Asp3077Glu in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 21.4% (927/4330) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs58308209). |
Gene |
RCV000117981 | SCV000514154 | benign | not specified | 2016-03-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000559616 | SCV000650455 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712764 | SCV000843288 | benign | not provided | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117981 | SCV000152295 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Laboratory of Diagnostic Genome Analysis, |
RCV000712764 | SCV001799780 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000117981 | SCV001924623 | benign | not specified | no assertion criteria provided | clinical testing |