Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219625 | SCV000272727 | uncertain significance | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | The p.Pro19592Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/13560 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Com putational prediction tools and conservation analyses do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of the p.Pro19592Leu variant is uncertain. |
Athena Diagnostics Inc | RCV000714071 | SCV000844738 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485404 | SCV002777298 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-09-01 | criteria provided, single submitter | clinical testing |