Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000465695 | SCV000542343 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798819 | SCV002043046 | uncertain significance | Cardiomyopathy | 2021-05-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481371 | SCV002779985 | 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 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003139602 | SCV003826590 | uncertain significance | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003139602 | SCV003935621 | uncertain significance | not provided | 2022-12-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; 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: 23975875) |