Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726940 | SCV000704319 | uncertain significance | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000595597 | SCV000713847 | uncertain significance | not specified | 2018-02-02 | criteria provided, single submitter | clinical testing | The p.Ile20508Thr variant in TTN has not been previously reported in individuals with cardiomyopathy but it has been identified in 1/15274 African chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs765930349). Computational prediction tools and conservation analysis sugges t that the p.Ile20508Thr variant may not impact the protein, though this informa tion is not predictive enough to rule out pathogenicity. In summary, the clinica l significance of the p.Ile20508Thr variant is uncertain. ACMG/AMP Criteria appl ied: BP4. |
Mayo Clinic Laboratories, |
RCV000726940 | SCV002541934 | uncertain significance | not provided | 2021-07-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000726940 | SCV003827344 | uncertain significance | not provided | 2021-05-31 | criteria provided, single submitter | clinical testing |