ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.341-3T>G (rs1131690965)

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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 RCV000492211 SCV000580991 likely pathogenic Hereditary cancer-predisposing syndrome 2016-05-04 criteria provided, single submitter clinical testing Moderate segregation with disease (at least 3 informative meioses) for rare diseases.;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other strong data supporting pathogenic classification
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767259 SCV000897808 uncertain significance Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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