Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000117983 | SCV000332595 | benign | not specified | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000531341 | SCV000650473 | 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 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117983 | SCV000732058 | benign | not specified | 2017-02-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000117983 | SCV001475971 | benign | not specified | 2020-02-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905125 | SCV004732272 | benign | PLEC-related condition | 2019-03-29 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genetic Services Laboratory, |
RCV000117983 | SCV000152299 | 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. | |
Laboratory of Diagnostic Genome Analysis, |
RCV001729394 | SCV001979921 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117983 | SCV001980370 | benign | not specified | no assertion criteria provided | clinical testing |