ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)

dbSNP: rs769375482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245472 SCV002515742 likely pathogenic Platelet-type bleeding disorder 15 no assertion criteria provided research

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