Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078870 | SCV000110730 | benign | not specified | 2013-04-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000078870 | SCV000304338 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000557988 | SCV000650292 | 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 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618246 | SCV001845528 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078870 | SCV000152268 | 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. |