Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501393 | SCV000593310 | uncertain significance | not specified | 2016-02-26 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001507470 | SCV001713055 | uncertain significance | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001507470 | SCV001997899 | uncertain significance | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002527198 | SCV003752410 | uncertain significance | Inborn genetic diseases | 2021-07-20 | criteria provided, single submitter | clinical testing | The c.5024G>A (p.R1675H) alteration is located in exon 37 (coding exon 37) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 5024, causing the arginine (R) at amino acid position 1675 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |