Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000412518 | SCV000807251 | pathogenic | SSR4-congenital disorder of glycosylation | 2017-09-01 | criteria provided, single submitter | clinical testing | This splice variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in an 11-year-old male with intellectual disability, microcephaly, seizures, hip dysplasia, strabismus, scoliosis, and osteopenia |
Revvity Omics, |
RCV000412518 | SCV003825831 | uncertain significance | SSR4-congenital disorder of glycosylation | 2022-03-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000412518 | SCV000490217 | pathogenic | SSR4-congenital disorder of glycosylation | 2016-11-28 | no assertion criteria provided | literature only |