Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727967 | SCV000855483 | uncertain significance | not provided | 2017-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078546 | SCV001021142 | 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 | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727967 | SCV001371465 | likely benign | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938094 | SCV004753831 | likely benign | PLEC-related condition | 2019-12-07 | 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). |