ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.206dup (p.Thr70fs)

dbSNP: rs606231267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV000144896 SCV004697639 pathogenic Intellectual disability, autosomal dominant 30 criteria provided, single submitter clinical testing
OMIM RCV000144896 SCV000191898 pathogenic Intellectual disability, autosomal dominant 30 2014-10-01 no assertion criteria provided literature only

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