ClinVar Miner

Submissions for variant NM_005862.3(STAG1):c.1716dup (p.Ile573fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290068 SCV002581720 likely pathogenic Intellectual disability, autosomal dominant 47 2022-08-05 criteria provided, single submitter clinical testing

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