Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000286981 | SCV005622159 | uncertain significance | not provided | 2024-03-08 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene. (http://gnomad.broadinstitute.org) Computational tools disagree on the variant's effect on normal protein function. |
| CHEO Genetics Diagnostic Laboratory, |
RCV003486811 | SCV004239872 | likely benign | Cardiomyopathy | 2022-09-08 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000286981 | SCV004237121 | uncertain significance | not provided | 2023-08-03 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002494895 | SCV002778518 | 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 | 2021-08-17 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000525135 | SCV000642913 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-19 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000286981 | SCV000345031 | uncertain significance | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing |