Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442278 | SCV000517416 | benign | not specified | 2016-04-04 | 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. |
Invitae | RCV000525131 | SCV000642069 | benign | Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810908 | SCV001471585 | benign | not provided | 2021-11-19 | criteria provided, single submitter | clinical testing |