Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444392 | SCV000515750 | benign | not specified | 2016-10-20 | 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 | RCV000545042 | SCV000651279 | benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810901 | SCV001472322 | benign | not provided | 2019-11-21 | criteria provided, single submitter | clinical testing |