Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172707 | SCV000051328 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000041061 | SCV000064752 | benign | not specified | 2014-11-20 | criteria provided, single submitter | clinical testing | p.Pro5334Leu in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 3.0% (482/16240) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs151253841). |
Gene |
RCV000172707 | SCV000238150 | benign | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000347993 | SCV000424736 | likely benign | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000403965 | SCV000424737 | likely benign | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000284884 | SCV000424738 | likely benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000342254 | SCV000424739 | likely benign | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000397132 | SCV000424740 | likely benign | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000297525 | SCV000424741 | likely benign | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000041061 | SCV001984619 | benign | not specified | 2020-03-19 | criteria provided, single submitter | clinical testing |