Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000356429 | SCV000339688 | likely benign | not specified | 2016-03-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000557333 | SCV000650203 | 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 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543078 | SCV004783096 | likely benign | PLEC-related disorder | 2024-09-26 | 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). |