ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs)

dbSNP: rs2151108738
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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 RCV002226812 SCV002505670 likely pathogenic Bernard Soulier syndrome 2022-05-02 no assertion criteria provided research

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