Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000172915 | SCV000787459 | likely pathogenic | Hypomagnesemia, seizures, and intellectual disability 1 | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Hypomagnesemia, seizures, and mental retardation, Autosomal Dominant 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. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:24699222). PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:24699222). |
OMIM | RCV000172915 | SCV000223899 | pathogenic | Hypomagnesemia, seizures, and intellectual disability 1 | 2014-04-01 | no assertion criteria provided | literature only |