Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608122 | SCV000723148 | likely benign | not specified | 2017-10-05 | 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. |
Labcorp Genetics |
RCV000946059 | SCV001092148 | 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 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV004584772 | SCV005075384 | uncertain significance | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | PLEC: PM2, PM3:Supporting |
Ambry Genetics | RCV004955716 | SCV005476081 | uncertain significance | Inborn genetic diseases | 2024-10-19 | criteria provided, single submitter | clinical testing | The c.3308A>G (p.Q1103R) alteration is located in exon 26 (coding exon 25) of the PLEC gene. This alteration results from a A to G substitution at nucleotide position 3308, causing the glutamine (Q) at amino acid position 1103 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |