Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Genomics Program, |
RCV001293217 | SCV001434215 | likely pathogenic | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Gene |
RCV003227947 | SCV003924968 | likely pathogenic | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing | Reported in a patient with DCM in the published literature (Al-Shafai et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (Deo et al., 2016; Schafer et al., 2017); This variant is associated with the following publications: (PMID: 27625338, 27869827, 34137518) |