Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177723 | SCV000333727 | likely benign | not specified | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000531971 | SCV000614605 | benign | not provided | 2019-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082126 | SCV000650175 | 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 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000531971 | SCV000714227 | likely benign | not provided | 2020-04-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000531971 | SCV004163428 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Laboratory of Diagnostic Genome Analysis, |
RCV000531971 | SCV001797549 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000531971 | SCV001966526 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000531971 | SCV001978122 | likely benign | not provided | no assertion criteria provided | clinical testing |