Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441101 | SCV000523046 | likely benign | not specified | 2017-07-05 | 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. |
Molecular Genetics Laboratory, |
RCV001174058 | SCV001337178 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001467479 | SCV001671503 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2022-09-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972619 | SCV004791579 | likely benign | DYNC1H1-related condition | 2020-03-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |