ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.816T>A (p.Asn272Lys)

dbSNP: rs1602220724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852229 SCV000899951 uncertain significance Thrombocytopenia 2019-02-01 criteria provided, single submitter research

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