Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156844 | SCV000206565 | uncertain significance | not specified | 2014-09-29 | criteria provided, single submitter | clinical testing | The Thr32173Ile variant in TTN gene has not been previously reported in individu als with cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong evidence for or against a n impact to the protein.In summary, the clinical significance of the Thr32173Ile variant is uncertain. |
Invitae | RCV000231220 | SCV000286402 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-05 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725412 | SCV000336793 | uncertain significance | not provided | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725412 | SCV001146303 | uncertain significance | not provided | 2019-04-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505180 | SCV002812833 | 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 | 2021-09-02 | criteria provided, single submitter | clinical testing |