Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078835 | SCV000110695 | benign | not specified | 2014-05-21 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000078835 | SCV000269649 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Thr3692Thr in exon 32 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 40.8% (3444/8438) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6984820). |
Preventiongenetics, |
RCV000078835 | SCV000304301 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001516977 | SCV001725358 | 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 |
RCV001711181 | SCV001944450 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789019 | SCV002031919 | benign | Epidermolysis bullosa simplex with nail dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789016 | SCV002031930 | benign | Epidermolysis bullosa simplex, Ogna type | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789015 | SCV002031941 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789017 | SCV002031952 | benign | Epidermolysis bullosa simplex 5C, with pyloric atresia | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789018 | SCV002031964 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078835 | SCV000152221 | 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. |