Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000664061 | SCV000787494 | likely pathogenic | Extra oral halitosis | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Extraoral halitosis, Autosomal Recessive inheritance. 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. PS3 => Well-established functional studies show a deleterious effect (PMID:29255262). PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease. |
OMIM | RCV000710010 | SCV000840375 | pathogenic | Extraoral halitosis due to methanethiol oxidase deficiency | 2018-10-12 | no assertion criteria provided | literature only |