Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036257 | SCV000059909 | benign | not specified | 2012-12-06 | criteria provided, single submitter | clinical testing | Data from the 1000genomes has an MAF for G at 10.8% (179 chromosomes). |
ARUP Laboratories, |
RCV000990891 | SCV001156953 | benign | X-linked mixed hearing loss with perilymphatic gusher | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054582 | SCV002410354 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000036257 | SCV001741827 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000036257 | SCV001976245 | benign | not specified | no assertion criteria provided | clinical testing |