ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)

dbSNP: rs121913655
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Total submissions: 4
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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
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000015122 SCV002569196 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss criteria provided, single submitter clinical testing
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 not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss no assertion provided literature only

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