ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5821del (p.Asp1941fs)

dbSNP: rs587776808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015131 SCV000035388 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2005-02-01 no assertion criteria provided literature only
GeneReviews RCV000015131 SCV000240235 not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss no assertion provided literature only Thrombocytopenia usually remains only disease manifestation throughout life

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