ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)

dbSNP: rs1601976527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Open Variation Database RCV000851572 SCV000994648 pathogenic Fanconi anemia complementation group B 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. Comment: Variant observed de novo.

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