Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001310078 | SCV001486207 | likely pathogenic | ALG1-congenital disorder of glycosylation | 2021-03-05 | no assertion criteria provided | clinical testing | PM2_supporting, PP3, PM3_strong (the variant was found compound-heterozygous with p.S258L in the patient (1 point) and was found in homozygous state in two affected siblings of an unrelated family (additional 1 point), personal communication Johannes Gutenberg University, Mainz) , according to ClinGen recommendation v1.0 for PM3, PP4. |