ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.413del (p.Pro138fs) (rs1559428164)

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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 RCV000767269 SCV000897821 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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