Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001752817 | SCV001997781 | uncertain significance | not provided | 2020-01-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Located in the I-band region; however, this variant is not located in one of the constitutive exons. Studies suggest that truncating variants affecting constitutive exons throughout the TTN gene are significantly associated with DCM (Deo, 2016; Schafer et al., 2017); Deletes part of exon 166 and removes the canonical acceptor splice site of intron 165; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown |
Fulgent Genetics, |
RCV002506787 | SCV002813425 | 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 | 2021-10-14 | criteria provided, single submitter | clinical testing |