Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544804 | SCV000656142 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591293 | SCV001815354 | uncertain significance | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001591293 | SCV003833377 | uncertain significance | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | |
Genome |
RCV002508939 | SCV002818375 | not provided | Bethlem myopathy | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 08-31-2015 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |