Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000488236 | SCV000229261 | uncertain significance | not provided | 2015-01-29 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000415137 | SCV000493054 | uncertain significance | Abnormality of the skeletal system; Myopia; Cutis laxa; Mitral valve prolapse; Abnormality of connective tissue; Scleroderma | 2014-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488236 | SCV000525099 | likely benign | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ce |
RCV000488236 | SCV000574884 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SLC39A13: BS2 |
Invitae | RCV001086027 | SCV000646922 | likely benign | Ehlers-Danlos syndrome, spondylocheirodysplastic type | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277391 | SCV002566081 | benign | Ehlers-Danlos syndrome | 2022-07-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277392 | SCV002567021 | benign | Connective tissue disorder | 2022-07-17 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000488236 | SCV001798308 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000488236 | SCV001808401 | likely benign | not provided | no assertion criteria provided | clinical testing |