ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.1592_1593insGGGGCCATGGAG (p.Asp531delinsGluGlyProTrpSer)

dbSNP: rs1594758038
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851958 SCV000899381 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research

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