Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630899 | SCV000751872 | likely pathogenic | Fanconi anemia | 2023-03-04 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 526377). This variant is also known as c.3602_3604del. This variant has been observed in individual(s) with Fanconi anemia (PMID: 17924555, 29098742). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This variant, c.3605_3607del, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Glu1202del), but otherwise preserves the integrity of the reading frame. |
Counsyl | RCV000671321 | SCV000796283 | uncertain significance | Fanconi anemia complementation group A | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000671321 | SCV001425851 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter. |
Natera, |
RCV000630899 | SCV002092519 | likely pathogenic | Fanconi anemia | 2020-12-21 | no assertion criteria provided | clinical testing |