ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) (rs13306411)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502024 SCV000595019 likely benign not specified 2017-06-12 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477769 SCV000536894 uncertain significance Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 2015-12-18 no assertion criteria provided research

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