Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001293974 | SCV001482700 | uncertain significance | Fanconi anemia complementation group C | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001773597 | SCV002003100 | uncertain significance | not provided | 2020-02-11 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002357076 | SCV002647756 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-13 | criteria provided, single submitter | clinical testing | The p.D195H variant (also known as c.583G>C), located in coding exon 6 of the FANCC gene, results from a G to C substitution at nucleotide position 583. The aspartic acid at codon 195 is replaced by histidine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |