ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly)

dbSNP: rs1557670515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab, Seattle Children's Research Institute RCV000714227 SCV000840389 pathogenic Lissencephaly with decussation defect 2018-10-08 no assertion criteria provided clinical testing
OMIM RCV000855684 SCV000998833 pathogenic Lissencephaly 9 with complex brainstem malformation 2019-02-15 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291261 SCV001479686 likely pathogenic lissencephaly with brainstem hypoplasia no assertion criteria provided research

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