ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.694C>T (p.Gln232Ter)

dbSNP: rs875989805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000211110 SCV000268069 likely pathogenic Nance-Horan syndrome 2015-01-01 criteria provided, single submitter literature only

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