Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331654 | SCV001523742 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2019-02-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV003135989 | SCV003820279 | uncertain significance | not provided | 2022-05-11 | criteria provided, single submitter | clinical testing |