Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000308519 | SCV000337251 | likely benign | not specified | 2016-08-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001171996 | SCV000528010 | likely benign | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000545431 | SCV000650248 | 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 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001171996 | SCV001334923 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Athena Diagnostics | RCV000308519 | SCV001475280 | benign | not specified | 2024-06-25 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001171996 | SCV005222334 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001171996 | SCV001799936 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001171996 | SCV001964045 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001171996 | SCV001977872 | likely benign | not provided | no assertion criteria provided | clinical testing |