Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548238 | SCV000636887 | benign | SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001310503 | SCV001500335 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | PIK3R1: BP4, BP7 |
ARUP Laboratories, |
RCV001310503 | SCV004562880 | likely benign | not provided | 2023-01-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001310503 | SCV001931727 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001310503 | SCV001973111 | likely benign | not provided | no assertion criteria provided | clinical testing |