Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001941486 | SCV002224514 | likely benign | Fanconi anemia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001941486 | SCV002529522 | uncertain significance | Fanconi anemia | 2022-01-26 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002484721 | SCV002779818 | uncertain significance | Fanconi anemia complementation group D2 | 2022-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002562821 | SCV003695700 | uncertain significance | Inborn genetic diseases | 2021-07-15 | criteria provided, single submitter | clinical testing | The c.3877G>A (p.V1293I) alteration is located in exon 39 (coding exon 38) of the FANCD2 gene. This alteration results from a G to A substitution at nucleotide position 3877, causing the valine (V) at amino acid position 1293 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |