ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+8C>T

dbSNP: rs756068442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000767257 SCV000897806 likely benign Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001060942 SCV001225663 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-28 criteria provided, single submitter clinical testing

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