Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078866 | SCV000110726 | benign | not specified | 2013-04-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000078866 | SCV000269679 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Ala1622Ala in exon 31 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 37.5% (3006/8022) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs56117011). |
Prevention |
RCV000078866 | SCV000304335 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001521019 | SCV001730267 | 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 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711184 | SCV001944418 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789084 | SCV002031338 | benign | Epidermolysis bullosa simplex with nail dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789081 | SCV002031339 | benign | Epidermolysis bullosa simplex, Ogna type | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789080 | SCV002031340 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789082 | SCV002031341 | benign | Epidermolysis bullosa simplex 5C, with pyloric atresia | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789083 | SCV002031343 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078866 | SCV000152263 | 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. |