ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)

dbSNP: rs1563183469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab, Seattle Children's Research Institute RCV000779651 SCV000916330 likely pathogenic Corpus callosum, agenesis of; Multiple congenital anomalies; Autism spectrum disorder due to AUTS2 deficiency 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257949 SCV001434761 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research

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