ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) (rs80338834)

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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 RCV000790361 SCV000891154 pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PS4, PP1_strong, PM2, PP4, PP3
OMIM RCV000015119 SCV000035376 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2001-11-01 no assertion criteria provided literature only
GeneReviews RCV000015119 SCV000055832 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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