ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.-5A>C

gnomAD frequency: 0.00106  dbSNP: rs35793832
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679011 SCV000211834 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29790589)
Ambry Genetics RCV000566000 SCV000675799 likely benign Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV000679011 SCV000805314 likely benign not provided 2018-03-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818360 SCV002068802 uncertain significance not specified 2019-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002053943 SCV002438249 benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-05-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566000 SCV002534192 likely benign Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003998532 SCV004817417 likely benign Von Hippel-Lindau syndrome 2024-01-11 criteria provided, single submitter clinical testing

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