ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.183C>G (p.Pro61=) (rs63650860)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000213076 SCV000605563 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000161102 SCV000213631 likely benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658953 SCV000780756 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000658953 SCV000224255 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000213076 SCV000211837 benign not specified 2014-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000123102 SCV000439635 likely benign Von Hippel-Lindau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000456134 SCV000166403 benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000658953 SCV000805323 likely benign not provided 2018-02-26 criteria provided, single submitter clinical testing

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