ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs)

dbSNP: rs773663190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246268 SCV002516507 pathogenic Bernard-Soulier syndrome, type A2, autosomal dominant 2022-05-04 criteria provided, single submitter clinical testing
Birmingham Platelet Group; University of Birmingham RCV001270584 SCV001450883 likely pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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