Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593694 | SCV000702576 | uncertain significance | not provided | 2016-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001034781 | SCV001198079 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000593694 | SCV003829665 | uncertain significance | not provided | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000593694 | SCV004229604 | uncertain significance | not provided | 2022-10-21 | 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. |
Natera, |
RCV001276440 | SCV001462786 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |