Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155626 | SCV000205334 | uncertain significance | not specified | 2014-02-27 | criteria provided, single submitter | clinical testing | The Ile32620Leu variant in TTN has now been identified by our laboratory in 1 in dividual with HCM and 1 individual with ARVC/DCM. It was absent from large popul ation studies. Computational prediction tools and conservation analysis do not p rovide strong support for or against an impact to the protein. Additional inform ation is needed to fully assess the clinical significance of the Ile32620Leu var iant. |
Eurofins Ntd Llc |
RCV000729504 | SCV000857173 | uncertain significance | not provided | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000729504 | SCV003821044 | uncertain significance | not provided | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000729504 | SCV004225013 | uncertain significance | not provided | 2022-07-20 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000729504 | SCV001918318 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000729504 | SCV001928134 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000729504 | SCV001951906 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000729504 | SCV001972129 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Practice for Gait Abnormalities, |
RCV002225088 | SCV002503865 | likely pathogenic | Tip-toe gait | no assertion criteria provided | clinical testing |