ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.64G>A (p.Ala22Thr)

dbSNP: rs587780273
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam RCV006635927 SCV006551098 likely pathogenic ACTB-associated syndromic thrombocytopenia 2025-09-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116223 SCV000150135 likely pathogenic Baraitser-Winter syndrome 1 2013-08-15 criteria provided, single submitter clinical testing

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