Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000008797 | SCV000930064 | likely pathogenic | Myopathy, centronuclear, 2 | 2019-01-08 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Myopathy, centronuclear, 2 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. PS3 : Well-established functional studies show a deleterious effect (PMID:17676042). |
OMIM | RCV000008797 | SCV000029007 | pathogenic | Myopathy, centronuclear, 2 | 2007-09-01 | no assertion criteria provided | literature only |