Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088364 | SCV000650379 | 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 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000593117 | SCV000701038 | likely benign | not specified | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000535874 | SCV001155523 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945284 | SCV004765336 | likely benign | PLEC-related condition | 2019-04-05 | 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). |