Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001508479 | SCV000238247 | likely benign | not provided | 2018-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000228104 | SCV000286470 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-01-23 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769074 | SCV000900447 | uncertain significance | Cardiomyopathy | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508479 | SCV001714659 | uncertain significance | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001508479 | SCV003819759 | uncertain significance | not provided | 2019-05-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001508479 | SCV004229374 | uncertain significance | not provided | 2022-12-19 | 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 uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function. |