Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Degerman lab, |
RCV000677345 | SCV000611697 | likely pathogenic | Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2017-11-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000799933 | SCV000939622 | uncertain significance | Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508165 | SCV001714132 | uncertain significance | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing |