Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442443 | SCV000529779 | likely benign | not specified | 2016-08-08 | 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. |
Eurofins Ntd Llc |
RCV000727303 | SCV000707443 | uncertain significance | not provided | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001501830 | SCV001706648 | likely benign | Myofibrillar myopathy 3 | 2023-04-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003959957 | SCV004769779 | likely benign | MYOT-related disorder | 2019-07-11 | 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). |