ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.195dup (p.Thr66fs)

dbSNP: rs1602006627
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Total submissions: 2
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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.

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