Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174248 | SCV000335011 | likely benign | not specified | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721103 | SCV000522684 | likely benign | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000174248 | SCV000596442 | uncertain significance | not specified | 2016-12-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000559452 | SCV000650168 | 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 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000174248 | SCV000711609 | likely benign | not specified | 2016-12-14 | criteria provided, single submitter | clinical testing | p.Ser523Arg in exon 11 of PLEC: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.4% (71/16504) of South Asian chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201667254). |
Ce |
RCV001721103 | SCV002498000 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | PLEC: BS2 |
Ambry Genetics | RCV002516622 | SCV003723180 | uncertain significance | Inborn genetic diseases | 2021-08-06 | criteria provided, single submitter | clinical testing | The c.1239C>G (p.S413R) alteration is located in exon 12 (coding exon 11) of the PLEC gene. This alteration results from a C to G substitution at nucleotide position 1239, causing the serine (S) at amino acid position 413 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV001721103 | SCV005409546 | uncertain significance | not provided | 2024-02-16 | criteria provided, single submitter | clinical testing | BS1 |
Prevention |
RCV004537363 | SCV004751151 | likely benign | PLEC-related disorder | 2020-06-10 | 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). |