ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2105G>A (p.Arg702His) (rs80338827)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851738 SCV000899591 likely pathogenic MYH9-related disorder 2019-02-01 criteria provided, single submitter research
OMIM RCV000015132 SCV000035389 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2002-02-01 no assertion criteria provided literature only
GeneReviews RCV000015132 SCV000055823 pathologic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2011-04-05 no assertion criteria provided curation Converted during submission to Pathogenic.

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