ClinVar Miner

Submissions for variant NM_001102.4(ACTN1):c.770C>G (p.Thr257Arg) (rs1594773549)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851878 SCV000899911 uncertain significance Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
Hematology laboratory,Robert Debré Hospital RCV000824959 SCV000966135 likely pathogenic Platelet-type bleeding disorder 15 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003913 SCV001161850 likely pathogenic Thrombocytopenia no assertion criteria provided research

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