Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000710004 | SCV000996455 | likely pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18 | 2019-02-27 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Glycosylphosphatidylinositol biosynthesis defect 18, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-Moderate, PS3. |
OMIM | RCV000710004 | SCV000840369 | pathogenic | Glycosylphosphatidylinositol biosynthesis defect 18 | 2021-05-21 | no assertion criteria provided | literature only |