Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218491 | SCV000272435 | uncertain significance | not specified | 2015-08-11 | criteria provided, single submitter | clinical testing | The p.Val486Ile variant in SKI has not been previously reported in individuals w ith Shprintzen-Goldberg syndrome, but has been identified in 1/216 Yoruba Africa n chromosomes by the 1000 Genomes Project (dbSNP rs200717031). Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Va l486Ile variant is uncertain. |
Invitae | RCV000535528 | SCV000637281 | likely benign | Shprintzen-Goldberg syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002466469 | SCV002762488 | uncertain significance | not provided | 2022-11-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |