Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156882 | SCV000206603 | uncertain significance | not specified | 2014-11-12 | criteria provided, single submitter | clinical testing | The p.Pro6267Ser variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p .Pro6267Ser variant is uncertain. |
Eurofins Ntd Llc |
RCV000726200 | SCV000342862 | uncertain significance | not provided | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147367 | SCV003835381 | uncertain significance | Dilated cardiomyopathy 1G | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147370 | SCV003835798 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147366 | SCV003835799 | uncertain significance | Hypertrophic cardiomyopathy 9 | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147368 | SCV003835932 | uncertain significance | Tibial muscular dystrophy | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147369 | SCV003835986 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147371 | SCV003836017 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2022-11-03 | criteria provided, single submitter | clinical testing |