ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del)

dbSNP: rs1353636692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002265869 SCV002548968 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2021-08-20 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722320 SCV000853451 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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