Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610596 | SCV000728247 | likely benign | not specified | 2018-03-08 | 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 | RCV000865072 | SCV001005977 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274632 | SCV001458962 | likely benign | Familial dysautonomia | 2020-09-16 | no assertion criteria provided | clinical testing |