Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117938 | SCV000152215 | benign | not specified | 2017-03-17 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224453 | SCV000280811 | likely benign | not provided | 2016-05-17 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Eurofins Ntd Llc |
RCV000117938 | SCV000333252 | benign | not specified | 2015-07-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117938 | SCV000524067 | benign | not specified | 2016-03-31 | 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. |
Labcorp Genetics |
RCV001084026 | SCV000677067 | 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 | |
Athena Diagnostics | RCV000224453 | SCV000843229 | benign | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224453 | SCV001155506 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BS2 |
Genome Diagnostics Laboratory, |
RCV000224453 | SCV002033901 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000224453 | SCV002036323 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004529973 | SCV004738740 | benign | PLEC-related disorder | 2019-05-29 | no assertion criteria provided | 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). |