ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.470C>T (p.Thr157Ile) (rs869025660)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001289415 SCV001477206 pathogenic not provided 2019-11-29 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. One de novo case with parental identity not confirmed. Found in multiple individuals with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000208862 SCV000264752 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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