Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612991 | SCV000715102 | likely benign | not specified | 2018-01-26 | 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 | RCV001224658 | SCV001396872 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003133395 | SCV003813284 | uncertain significance | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing |