Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536894 | SCV000653770 | benign | Immunodeficiency 14 | 2024-01-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000536894 | SCV001474456 | benign | Immunodeficiency 14 | 2020-06-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001702521 | SCV002062392 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PIK3CD: BP4, BP7 |
Fulgent Genetics, |
RCV002506368 | SCV002808247 | likely benign | Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001702521 | SCV001932278 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702521 | SCV001968629 | likely benign | not provided | no assertion criteria provided | clinical testing |