Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078902 | SCV000110762 | benign | not specified | 2013-04-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000078902 | SCV000269702 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Arg2969His in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 41.2% (3412/8288) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs6558407). |
Prevention |
RCV000078902 | SCV000304353 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001516979 | SCV001725360 | 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 |
RCV001682763 | SCV001896669 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789125 | SCV002032030 | benign | Epidermolysis bullosa simplex with nail dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789122 | SCV002032034 | benign | Epidermolysis bullosa simplex, Ogna type | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789121 | SCV002032035 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789123 | SCV002032036 | benign | Epidermolysis bullosa simplex 5C, with pyloric atresia | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789124 | SCV002032038 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078902 | SCV000152294 | 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. |