ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.27C>T (p.Asp9=)

dbSNP: rs1017141110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472149 SCV000563220 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436520 SCV002747403 likely benign Hereditary cancer-predisposing syndrome 2021-04-14 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.
All of Us Research Program, National Institutes of Health RCV004002230 SCV004841226 likely benign Von Hippel-Lindau syndrome 2023-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584727 SCV005075721 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing VHL: BP4, BP7

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