ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) (rs80338831)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000015134 SCV000595889 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2016-12-29 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000790358 SCV000891151 pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PS4, PP1_strong, PM2, PP4, PP3
OMIM RCV000015134 SCV000035391 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2003-07-15 no assertion criteria provided literature only
GeneReviews RCV000015134 SCV000055828 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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