Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036259 | SCV000059911 | benign | not specified | 2012-12-06 | criteria provided, single submitter | clinical testing | Data from the 1000genomes shows that an A has been seen in 7.6% (126) of chromos omes. |
ARUP Laboratories, |
RCV001001578 | SCV001158976 | benign | X-linked mixed hearing loss with perilymphatic gusher | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054583 | SCV002487281 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |