Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Personalized Medicine, |
RCV000735326 | SCV000854480 | likely pathogenic | Global developmental delay; Cerebral visual impairment; Microcephaly; Osteopenia; Infantile spasms | criteria provided, single submitter | clinical testing | ||
Center for Personalized Medicine, |
RCV003156121 | SCV003845250 | likely pathogenic | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing | |
University of Washington Center for Mendelian Genomics, |
RCV001543373 | SCV001761931 | likely pathogenic | Congenital disorder of glycosylation | no assertion criteria provided | research |