Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000373149 | SCV000237769 | likely benign | not specified | 2018-02-20 | 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. |
Ambry Genetics | RCV000249807 | SCV000319715 | likely benign | Cardiovascular phenotype | 2019-09-23 | criteria provided, single submitter | clinical testing | Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification |
EGL Genetic Diagnostics, |
RCV000373149 | SCV000342637 | likely benign | not specified | 2016-06-07 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000338023 | SCV000420823 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000397369 | SCV000420824 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000278867 | SCV000420825 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000336224 | SCV000420826 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000397381 | SCV000420827 | uncertain significance | Myopathy, early-onset, with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000315107 | SCV000420828 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084202 | SCV000555295 | likely benign | Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J | 2019-12-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768859 | SCV000900232 | uncertain significance | Cardiomyopathy | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000461639 | SCV001152656 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing |