ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln)

gnomAD frequency: 0.00001  dbSNP: rs1218844508
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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 RCV000779639 SCV000916316 uncertain significance Facial hemangioma; Isolated unilateral hemispheric cerebellar hypoplasia 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257992 SCV001434805 uncertain significance Congenital cerebellar hypoplasia no assertion criteria provided research

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