ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.114C>T (p.Ser38=)

gnomAD frequency: 0.00002  dbSNP: rs417164
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204195 SCV000261879 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-18 criteria provided, single submitter clinical testing
Counsyl RCV000412359 SCV000488996 likely benign Von Hippel-Lindau syndrome 2016-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575638 SCV000675795 likely benign Hereditary cancer-predisposing syndrome 2016-01-13 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.
GeneDx RCV001711983 SCV001941456 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711983 SCV002821158 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing VHL: BP4, BP7
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000412359 SCV004016215 likely benign Von Hippel-Lindau syndrome 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977572 SCV004799028 likely benign VHL-related disorder 2019-05-29 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).
All of Us Research Program, National Institutes of Health RCV000412359 SCV004824042 likely benign Von Hippel-Lindau syndrome 2023-12-18 criteria provided, single submitter clinical testing

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