ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5081G>A (p.Arg1694His) (rs538330756)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000735682 SCV000863826 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2018-03-05 no assertion criteria provided clinical testing

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