Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703484 | SCV000514157 | likely benign | not provided | 2019-09-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000440954 | SCV000614669 | likely benign | not specified | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000540405 | SCV000650488 | 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 | |
Ce |
RCV001703484 | SCV004163460 | benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BS1, BS2 |
Breakthrough Genomics, |
RCV001703484 | SCV005222292 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004737468 | SCV005365158 | benign | PLEC-related disorder | 2024-09-17 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |