Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV000851553 | SCV003841919 | pathogenic | Fanconi anemia complementation group B | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with FANCB related disorder (ClinVar ID: VCV000691299 / PMID: 32106311). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Leiden Open Variation Database | RCV000851553 | SCV000994626 | pathogenic | Fanconi anemia complementation group B | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |