ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.464-12T>C

dbSNP: rs746646171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002160027 SCV002412233 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-06-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005405 SCV004827372 likely benign Von Hippel-Lindau syndrome 2023-07-22 criteria provided, single submitter clinical testing

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