ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.132C>G (p.Gly44=)

dbSNP: rs1696123413
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257239 SCV002534138 likely benign Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320880 SCV004024877 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002257239 SCV005179650 likely benign Hereditary cancer-predisposing syndrome 2024-04-18 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.

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