ClinVar Miner

Submissions for variant NM_022788.5(P2RY12):c.365G>A (p.Arg122His)

gnomAD frequency: 0.00014  dbSNP: rs778790805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246267 SCV002517842 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Birmingham Platelet Group; University of Birmingham RCV001270568 SCV001450867 likely pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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