ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+20G>A

gnomAD frequency: 0.00003  dbSNP: rs757151154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002054355 SCV002340786 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493509 SCV004243130 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000209265 SCV000265490 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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