Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117984 | SCV000152300 | benign | not specified | 2013-08-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000117984 | SCV000224831 | benign | not specified | 2014-10-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117984 | SCV000514132 | benign | not specified | 2016-10-07 | 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 |
RCV000545319 | SCV000650477 | 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 | |
Mendelics | RCV000988123 | SCV001137716 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001258316 | SCV001435281 | benign | Epidermolysis bullosa simplex, Ogna type | criteria provided, single submitter | research | The heterozygous p.Arg323Gln variant in PLEC has been identified in the compound heterozygous state in 2 siblings from 1 family with muscular dystrophy with epidermolysis bullosa (PMID: 20016501). This variant has also been identified in >1% of European (non-Finnish) chromosomes and 19 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive muscular dystrophy with epidermolysis bullosa. | |
Athena Diagnostics | RCV000117984 | SCV001475973 | benign | not specified | 2024-05-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002512059 | SCV002821916 | benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BS1, BS2 |
Breakthrough Genomics, |
RCV002512059 | SCV005269685 | benign | not provided | criteria provided, single submitter | not provided |