Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000549715 | SCV000650334 | 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 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591253 | SCV001814932 | uncertain significance | not provided | 2021-11-22 | criteria provided, single submitter | clinical testing | Identified, with two other PLEC variants, in two siblings with limb girdle muscular dystrophy and myasthenic symptoms in published literature (Fattahi et al., 2015); observed with a loss-of-function variant on the same allele (in cis); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25556389) |
Ce |
RCV001591253 | SCV005330730 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | PLEC: PP3, BS2 |