Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001450091 | SCV000650478 | likely 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 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000593002 | SCV000701012 | uncertain significance | not provided | 2016-12-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000593002 | SCV002063219 | likely benign | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962556 | SCV004781430 | likely benign | PLEC-related condition | 2019-08-29 | criteria provided, single submitter | 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). |