ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223504 SCV003918980 pathogenic Bohring-Opitz syndrome 2023-04-20 criteria provided, single submitter research

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