ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.-64C>T

gnomAD frequency: 0.00014  dbSNP: rs772944298
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330011 SCV000439629 uncertain significance Von Hippel-Lindau syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
PreventionGenetics, part of Exact Sciences RCV003892005 SCV000805316 likely benign VHL-related disorder 2023-05-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx RCV000679013 SCV001824605 likely benign not provided 2019-08-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29790589)
Invitae RCV002057820 SCV002449125 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-11-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256218 SCV002534200 likely benign Hereditary cancer-predisposing syndrome 2021-01-12 criteria provided, single submitter curation

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