Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533496 | SCV000626216 | uncertain significance | Fanconi anemia | 2019-11-07 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with serine at codon 252 of the FANCA protein (p.Asp252Ser). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 134291). Prediction algorithms are not available for this variant, and the functional significance of this missense change is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000764091 | SCV000895055 | uncertain significance | Fanconi anemia, complementation group A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120964 | SCV000085132 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |