ClinVar Miner

Submissions for variant NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met)

dbSNP: rs1279041694
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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 RCV000779641 SCV000916318 uncertain significance Grade I preterm intraventricular hemorrhage; Isolated unilateral hemispheric cerebellar hypoplasia 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001258007 SCV001434821 uncertain significance Congenital cerebellar hypoplasia no assertion criteria provided research

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