ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5411G>A (p.Arg1804Gln)

gnomAD frequency: 0.00001  dbSNP: rs746543001
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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 RCV002287816 SCV002578077 uncertain significance See cases 2021-05-06 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3

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