Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001083685 | SCV000286607 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000834689 | SCV000976460 | likely benign | not provided | 2018-06-14 | 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. |
ARUP Laboratories, |
RCV000834689 | SCV001159549 | benign | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001289369 | SCV001477130 | benign | not specified | 2020-03-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840393 | SCV002101355 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840394 | SCV002101356 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840395 | SCV002101357 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840392 | SCV002101359 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000834689 | SCV005259992 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV001289369 | SCV001921784 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001289369 | SCV001952565 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001289369 | SCV001964094 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000834689 | SCV002036156 | likely benign | not provided | no assertion criteria provided | clinical testing |