Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000270984 | SCV000337545 | likely benign | not specified | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000537651 | SCV000529326 | likely benign | not provided | 2020-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079482 | SCV000650482 | 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 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000537651 | SCV001155509 | uncertain significance | not provided | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920083 | SCV004731376 | benign | PLEC-related condition | 2023-08-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |