Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668393 | SCV000792985 | uncertain significance | Fanconi anemia complementation group C | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001014600 | SCV001175327 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-04 | criteria provided, single submitter | clinical testing | The p.A72T variant (also known as c.214G>A), located in coding exon 2 of the FANCC gene, results from a G to A substitution at nucleotide position 214. The alanine at codon 72 is replaced by threonine, an amino acid with similar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS ONE, 2014 Apr;9:e94554). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
ITMI | RCV000120975 | SCV000085143 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Natera, |
RCV001826790 | SCV002081296 | uncertain significance | Fanconi anemia | 2021-07-06 | no assertion criteria provided | clinical testing |