Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000505511 | SCV000787454 | likely pathogenic | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PS3 => Well-established functional studies show a deleterious effect (PMID:28757203). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:28757203). |
Institute Of Human Genetics Munich, |
RCV000505511 | SCV001149825 | pathogenic | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268734 | SCV001447877 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000505511 | SCV000599793 | pathogenic | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2017-09-15 | no assertion criteria provided | literature only |