ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5123C>A (p.Ser1708Ter)

dbSNP: rs371204323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001376686 SCV001478045 pathogenic Global developmental delay 2021-01-22 criteria provided, single submitter research

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