Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001246397 | SCV001419747 | likely benign | Fanconi anemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004978207 | SCV005583292 | uncertain significance | Inborn genetic diseases | 2024-11-28 | criteria provided, single submitter | clinical testing | The p.Q13H variant (also known as c.39G>C), located in coding exon 1 of the FANCA gene, results from a G to C substitution at nucleotide position 39. The glutamine at codon 13 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
Natera, |
RCV001246397 | SCV002093160 | uncertain significance | Fanconi anemia | 2020-07-27 | no assertion criteria provided | clinical testing |