Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040086 | SCV000063777 | likely benign | not specified | 2015-09-22 | criteria provided, single submitter | clinical testing | p.Ser8413Leu in exon 97 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (31/9754) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; d bSNP rs200049911). |
Gene |
RCV000714006 | SCV000237043 | likely benign | not provided | 2021-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084892 | SCV000286557 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000714006 | SCV000844666 | benign | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839568 | SCV002101922 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839569 | SCV002101923 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839570 | SCV002101924 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839567 | SCV002101925 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000040086 | SCV001920642 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000714006 | SCV001965488 | likely benign | not provided | no assertion criteria provided | clinical testing |