Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652403 | SCV000774273 | likely benign | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292575 | SCV002585955 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | JAGN1: BP4, BP7 |