Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000270627 | SCV000439608 | uncertain significance | Fanconi anemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987109 | SCV001136307 | uncertain significance | Fanconi anemia complementation group A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV001270121 | SCV001448983 | uncertain significance | Global developmental delay; Intellectual disability; Cleft palate | 2019-01-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000270627 | SCV002189627 | uncertain significance | Fanconi anemia | 2023-11-30 | criteria provided, single submitter | clinical testing | This variant, c.4234_4239del, results in the deletion of 2 amino acid(s) of the FANCD2 protein (p.Ser1412_Glu1413del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766605179, gnomAD 0.1%). This variant has been observed in individual(s) with breast cancer (PMID: 25927356). ClinVar contains an entry for this variant (Variation ID: 342380). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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, |
RCV002504148 | SCV002816662 | uncertain significance | Fanconi anemia complementation group D2 | 2021-12-10 | criteria provided, single submitter | clinical testing |