Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880004 | SCV001023063 | likely benign | Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424436 | SCV004141184 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | PARN: BP4, BP7 |