ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.445G>C (p.Ala149Pro) (rs587780077)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208855 SCV000264740 uncertain significance Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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