Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538978 | SCV000658506 | likely benign | Autosomal recessive axonal neuropathy with neuromyotonia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000612050 | SCV000725602 | likely benign | not specified | 2017-12-18 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV000538978 | SCV003799482 | benign | Autosomal recessive axonal neuropathy with neuromyotonia | 2022-03-01 | criteria provided, single submitter | clinical testing |