ClinVar Miner

Submissions for variant NM_018489.3(ASH1L):c.8522G>A (p.Arg2841His)

gnomAD frequency: 0.00005  dbSNP: rs779448272
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV003232954 SCV003929526 uncertain significance See cases 2023-05-04 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3

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