Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176229 | SCV000227846 | uncertain significance | not provided | 2014-06-13 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000306929 | SCV000449404 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000363934 | SCV000449405 | uncertain significance | Cranioectodermal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001518883 | SCV001727658 | benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2024-01-27 | criteria provided, single submitter | clinical testing |