Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000375820 | SCV000345027 | uncertain significance | not provided | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079033 | SCV001015130 | 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 | |
Athena Diagnostics Inc | RCV001288672 | SCV001475956 | benign | not specified | 2020-02-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003949947 | SCV004766631 | likely benign | PLEC-related condition | 2019-07-19 | 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). |