Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000790850 | SCV001468550 | likely pathogenic | Mitochondrial complex 4 deficiency, nuclear type 18 | 2020-12-04 | criteria provided, single submitter | curation | This variant is interpreted as Likely pathogenic for Mitochondrial complex IV deficiency, nuclear type 18, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); For recessive disorders, detected in trans with a pathogenic variant (PM3); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate). |
OMIM | RCV000790850 | SCV000930035 | pathogenic | Mitochondrial complex 4 deficiency, nuclear type 18 | 2020-10-23 | no assertion criteria provided | literature only |