Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224963 | SCV000280623 | uncertain significance | not provided | 2015-06-04 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Eurofins Ntd Llc |
RCV000224963 | SCV000702646 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000224963 | SCV001416615 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000224963 | SCV001778629 | uncertain significance | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | 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 |
Natera, |
RCV001271756 | SCV001453182 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |