Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081476 | SCV000113407 | benign | not specified | 2012-07-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081476 | SCV000171152 | benign | not specified | 2013-12-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Preventiongenetics, |
RCV000081476 | SCV000311727 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001517754 | SCV001726320 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789132 | SCV002031770 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789130 | SCV002031771 | benign | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789131 | SCV002031772 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2K | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000081476 | SCV001917709 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000081476 | SCV001956336 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000081476 | SCV001973457 | benign | not specified | no assertion criteria provided | clinical testing |