ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys)

dbSNP: rs368352689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003324520 SCV004030169 pathogenic ACTB-associated syndromic thrombocytopenia 1999-07-20 no assertion criteria provided literature only
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001789615 SCV002032060 uncertain significance Thrombocytopenia no assertion criteria provided research
GeneReviews RCV000202367 SCV000257377 not provided Baraitser-Winter syndrome 1 no classification provided literature only Reported a 12-year-old girl with intellectual disability (IQ score: 54), photosensitivity and recurrent infections due to an impaired neutrophil chemotactic response.

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