Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000117970 | SCV000269693 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Ala263Ala in exon 5 of PLEC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 38.7% (3317/8576) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6993938). |
Preventiongenetics, |
RCV000117970 | SCV000304337 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000117970 | SCV000514131 | benign | not specified | 2016-01-05 | 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 | RCV000992649 | SCV001145080 | benign | not provided | 2018-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001510474 | SCV001717516 | 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 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789169 | SCV002031433 | benign | Epidermolysis bullosa simplex with nail dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789166 | SCV002031434 | benign | Epidermolysis bullosa simplex, Ogna type | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789165 | SCV002031435 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789167 | SCV002031436 | benign | Epidermolysis bullosa simplex 5C, with pyloric atresia | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789168 | SCV002031437 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117970 | SCV000152265 | 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. |