ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9693del (p.Leu3232fs) (rs1566260827)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Institute,Shaare Zedek Medical Center RCV000680274 SCV000803633 pathogenic Fanconi anemia, complementation group D1 2018-04-01 criteria provided, single submitter research

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