ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1977C>A (p.Tyr659Ter)

dbSNP: rs749201074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090545 SCV001246150 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV001376673 SCV001478032 pathogenic Global developmental delay 2021-01-22 criteria provided, single submitter research

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