ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.1067G>A (p.Trp356Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV005885386 SCV006580260 likely pathogenic ACTB-associated syndromic thrombocytopenia 2025-09-24 criteria provided, single submitter clinical testing Criteria applied: PM2,PS2_MOD,PVS1_MOD

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