Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000625517 | SCV000746013 | likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2017-12-01 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000625517 | SCV000998874 | likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2019-08-13 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Mitochondrial DNA depletion syndrome 6, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-strong. |