ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.586A>T (p.Lys196Ter) (rs281860296)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724622 SCV000228905 pathogenic not provided 2015-02-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000177084 SCV000697527 pathogenic Von Hippel-Lindau syndrome 2016-02-04 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000177084 SCV000264773 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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