ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2982del (p.Ile995fs)

dbSNP: rs2143427606
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto RCV002266127 SCV002547318 uncertain significance Platelet-type bleeding disorder 16 2022-07-08 no assertion criteria provided research

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