Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556612 | SCV000626221 | pathogenic | Fanconi anemia | 2023-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 456141). This sequence change creates a premature translational stop signal (p.Thr306Alafs*32) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is present in population databases (rs764122657, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. |
Fulgent Genetics, |
RCV000668910 | SCV002814632 | likely pathogenic | Fanconi anemia complementation group A | 2022-05-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000668910 | SCV004196042 | pathogenic | Fanconi anemia complementation group A | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000668910 | SCV000793585 | likely pathogenic | Fanconi anemia complementation group A | 2017-08-21 | no assertion criteria provided | clinical testing | |
Leiden Open Variation Database | RCV000668910 | SCV001426038 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards. |
Natera, |
RCV000556612 | SCV002095082 | pathogenic | Fanconi anemia | 2021-05-06 | no assertion criteria provided | clinical testing |