Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805373 | SCV000945327 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001559639 | SCV001781912 | uncertain significance | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | Identified independently and in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data is limited or absent at this time; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001559639 | SCV003833368 | uncertain significance | not provided | 2019-11-06 | criteria provided, single submitter | clinical testing |