Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000507704 | SCV000602343 | pathogenic | not specified | 2017-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000991474 | SCV001142892 | pathogenic | not provided | 2020-08-31 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). |
Genome- |
RCV001800721 | SCV002045829 | pathogenic | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing |