ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr)

dbSNP: rs1566588502
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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 RCV002245466 SCV002515735 uncertain significance Platelet-type bleeding disorder 15 no assertion criteria provided clinical testing

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