Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177679 | SCV000229586 | benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001087406 | SCV001019785 | 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 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000877106 | SCV001145068 | benign | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000877106 | SCV004163413 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Prevention |
RCV004539655 | SCV004767877 | likely benign | PLEC-related disorder | 2024-01-04 | 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). |