Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001353360 | SCV001548516 | likely pathogenic | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576495 | SCV001803700 | likely pathogenic | not provided | 2021-02-19 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay and located in the Z-disk region of the TTN gene, which is not one of the regions known to be significantly associated with TTN-related disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |