Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001768512 | SCV001992278 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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 |
Genetic Services Laboratory, |
RCV001821978 | SCV002066213 | uncertain significance | not specified | 2018-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003289070 | SCV003953766 | uncertain significance | Inborn genetic diseases | 2023-06-02 | criteria provided, single submitter | clinical testing | The c.3034C>T (p.R1012C) alteration is located in exon 22 (coding exon 22) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 3034, causing the arginine (R) at amino acid position 1012 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |