Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156809 | SCV000206530 | uncertain significance | not specified | 2014-09-10 | criteria provided, single submitter | clinical testing | The Gly28321Asp variant in TTN has not been previously reported in individuals w ith 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 G ly28321Asp variant is uncertain. |
Eurofins Ntd Llc |
RCV000725972 | SCV000340923 | uncertain significance | not provided | 2016-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000476481 | SCV000543003 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-04-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002484958 | SCV002803902 | 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 | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725972 | SCV003805464 | uncertain significance | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; This variant is associated with the following publications: (PMID: 29420653) |
Revvity Omics, |
RCV000725972 | SCV003824779 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing |