Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000297582 | SCV000333311 | likely benign | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000558645 | SCV000650138 | 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 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547286 | SCV001766951 | likely benign | not provided | 2020-10-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001547286 | SCV001962159 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BS2 |
Breakthrough Genomics, |
RCV001547286 | SCV005222287 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004535271 | SCV004751742 | likely benign | PLEC-related disorder | 2019-06-17 | 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). |