ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3781T>G (p.Trp1261Gly)

dbSNP: rs879253961
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251974 SCV001427720 pathogenic Intellectual disability, autosomal dominant 13 2019-01-01 no assertion criteria provided clinical testing

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