Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000725963 | SCV000525513 | likely benign | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000558023 | SCV000650186 | likely 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 | |
Eurofins Ntd Llc |
RCV000725963 | SCV000701205 | uncertain significance | not provided | 2017-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725963 | SCV001145066 | likely benign | not provided | 2019-01-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117953 | SCV000152237 | 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. |