ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4270G>C (p.Asp1424His) (rs80338831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032223 SCV000035380 pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2000-11-01 no assertion criteria provided literature only
GeneReviews RCV000032223 SCV000055829 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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