ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.279C>G (p.Asn93Lys) (rs121913655)

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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 RCV000790350 SCV000891143 pathogenic MYH9-related disorder 2018-12-12 criteria provided, single submitter research PS4, PS3, PM1, PM2, PP4, PP3
OMIM RCV000015122 SCV000035379 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2000-09-01 no assertion criteria provided literature only
GeneReviews RCV000015122 SCV000240233 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2015-07-16 no assertion criteria provided literature only

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