ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.320G>A (p.Arg107His) (rs193922609)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492448 SCV000580972 pathogenic Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Well-characterized mutation at same position
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208864 SCV000264706 likely pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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