Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001763204 | SCV001991819 | uncertain significance | not provided | 2019-08-08 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002489757 | SCV002793158 | uncertain significance | Guttmacher syndrome; Hand-foot-genital syndrome | 2022-04-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003355531 | SCV004071437 | uncertain significance | Inborn genetic diseases | 2023-06-26 | criteria provided, single submitter | clinical testing | The c.263G>A (p.R88H) alteration is located in exon 1 (coding exon 1) of the HOXA13 gene. This alteration results from a G to A substitution at nucleotide position 263, causing the arginine (R) at amino acid position 88 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |