ClinVar Miner

Submissions for variant NM_001987.5(ETV6):c.133del (p.Glu45fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003397227 SCV004102777 likely pathogenic Thrombocytopenia 5 2023-10-27 criteria provided, single submitter clinical testing

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