ClinVar Miner

Submissions for variant NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)

gnomAD frequency: 0.00001  dbSNP: rs911707459
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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 RCV000779665 SCV000916347 pathogenic Cephalocele; Joubert syndrome 33 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257996 SCV001434809 likely pathogenic Dandy-Walker syndrome no assertion criteria provided research

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