Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001171251 | SCV001333955 | uncertain significance | Cardiomyopathy | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001751301 | SCV001997098 | uncertain significance | not provided | 2019-12-26 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002491485 | SCV002788281 | 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 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001751301 | SCV003822944 | uncertain significance | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing |