Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035030 | SCV000058670 | likely benign | not specified | 2014-02-18 | criteria provided, single submitter | clinical testing | m.1193T>C in MTRNR1: This variant is not expected to have clinical significance because it has been identified at frequencies ranging from 0.2% to 33% across di fferent populations by phylogenetic studies (http://mitomap.org/MITOMAP, http:// www.mtdb.igp.uu.se). It has also been reported in 1/169 (0.59%) patients with he aring impairment (Guaran 2013). In summary, in the absence of any statistically significant association to hearing loss, the frequency of this variant suggests that it is likely benign. |
Athena Diagnostics | RCV000992376 | SCV001144604 | benign | not provided | 2018-12-12 | criteria provided, single submitter | clinical testing |