Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000222676 | SCV000110745 | benign | not specified | 2016-07-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000222676 | SCV000269687 | benign | not specified | 2015-11-03 | criteria provided, single submitter | clinical testing | p.Arg2160Arg in exon 31 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.6% (214/36854) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs376365984). |
Gene |
RCV000712750 | SCV000529648 | likely benign | not provided | 2020-09-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001083471 | SCV000650357 | 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 | RCV000712750 | SCV000843274 | benign | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504989 | SCV002802671 | likely benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712750 | SCV004163510 | likely benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Breakthrough Genomics, |
RCV000712750 | SCV005222314 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004537319 | SCV004748754 | likely benign | PLEC-related disorder | 2019-09-03 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |