Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516968 | SCV000614598 | likely benign | not specified | 2016-08-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726188 | SCV000701284 | uncertain significance | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002060251 | SCV002417793 | 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 | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000726188 | SCV003815605 | uncertain significance | not provided | 2019-08-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900077 | SCV004715175 | likely benign | PLEC-related condition | 2022-10-06 | 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). |