Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727770 | SCV000855160 | uncertain significance | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085171 | SCV001098083 | 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 | 2023-10-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727770 | SCV001155541 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Prevention |
RCV003918182 | SCV004732178 | likely benign | PLEC-related condition | 2019-05-02 | 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). |