Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456507 | SCV000542992 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577263 | SCV001804612 | uncertain significance | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | In-frame deletion of five amino acids in a non-repeat region; Located in a region of TTN within the I-band (Deo et al., 2016; Schafer et al., 2017); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Mayo Clinic Laboratories, |
RCV001577263 | SCV002541960 | uncertain significance | not provided | 2021-09-13 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486848 | SCV004239892 | uncertain significance | Cardiomyopathy | 2022-11-17 | criteria provided, single submitter | clinical testing |