ClinVar Miner

Submissions for variant NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) (rs144610914)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Heidelberg University RCV000735944 SCV000863406 pathogenic JOUBERT SYNDROME 33 no assertion criteria provided research The variant is observed as compound heterozygous along with the variant at 13:73468052 in the PIBF1 gene.
Dobyns Lab,Seattle Children's Research Institute RCV000779664 SCV000916346 pathogenic Cephalocele; JOUBERT SYNDROME 33 2019-02-18 no assertion criteria provided research

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