ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.1976G>A (p.Arg659Gln)

gnomAD frequency: 0.00004  dbSNP: rs567205565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477782 SCV000536906 uncertain significance Gray platelet syndrome 2016-06-04 no assertion criteria provided research

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