Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000368664 | SCV000341148 | uncertain significance | not provided | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003103754 | SCV001014558 | 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 | 2020-05-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003949898 | SCV004760593 | likely benign | PLEC-related condition | 2022-04-06 | 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). |