Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667754 | SCV000792253 | likely pathogenic | Fanconi anemia, complementation group A | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000822096 | SCV000962882 | pathogenic | Fanconi anemia | 2018-09-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln703*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Fanconi anaemia (PMID: 10094191). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV000667754 | SCV001425954 | pathogenic | Fanconi anemia, complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |