Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000584735 | SCV000883187 | uncertain significance | Combined oxidative phosphorylation deficiency 35 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Combined oxidative phosphorylation deficiency 35, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (https://www.ncbi.nlm.nih.gov/pubmed/28185376). |
Care4Rare- |
RCV000477660 | SCV000564083 | uncertain significance | TRIT1 Deficiency | no assertion criteria provided | research | This variant was seen in a heterozygous state with c.22C>T. | |
OMIM | RCV000584735 | SCV000692462 | pathogenic | Combined oxidative phosphorylation deficiency 35 | 2018-02-16 | no assertion criteria provided | literature only |