Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000117959 | SCV000203310 | benign | not specified | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000117959 | SCV000269669 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | c.2868+6C>T in intron 20 of PLEC: This variant is not expected to have clinical significance because it has been identified in 45.4% (1842/4060) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs11780911). |
Prevention |
RCV000117959 | SCV000304319 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001520617 | SCV001729758 | 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 |
RCV001534504 | SCV001751439 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789159 | SCV002031388 | benign | Epidermolysis bullosa simplex with nail dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789156 | SCV002031389 | benign | Epidermolysis bullosa simplex, Ogna type | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789155 | SCV002031390 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789157 | SCV002031391 | benign | Epidermolysis bullosa simplex 5C, with pyloric atresia | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789158 | SCV002031392 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117959 | SCV000152245 | 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. | |
Diagnostic Laboratory, |
RCV000117959 | SCV001743431 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000117959 | SCV001918742 | benign | not specified | no assertion criteria provided | clinical testing |