ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+5G>C (rs61758376)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514988 SCV000149654 benign not provided 2018-11-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 8956040, 25563310, 19996202, 22462637, 27884173, 22799452, 26332594, 20034980, 25985138, 27527340, 19906784, 22438210, 27057652, 25078357, 27069690, 27439424, 20518900, 8730290, 9829911, 21972040)
Invitae RCV001084166 SCV000166408 benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115745 SCV000184770 benign Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155670 SCV000205380 benign not specified 2013-06-21 criteria provided, single submitter clinical testing 340+5G>C in intron 1 of VHL: This variant is not expected to have clinical signi ficance because it has been identified in 4.5% (9/200) Southern Han Chinese chro mosomes by the 1000 Genomes Project (dbSNP rs61758376).
PreventionGenetics,PreventionGenetics RCV000155670 SCV000305276 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155670 SCV000331428 benign not specified 2015-10-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030584 SCV000439636 benign Von Hippel-Lindau syndrome 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514988 SCV000609622 likely benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514988 SCV000844853 benign not provided 2018-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000155670 SCV001158621 benign not specified 2019-02-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030584 SCV000053260 benign Von Hippel-Lindau syndrome 2015-06-04 no assertion criteria provided clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000030584 SCV000264715 benign Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000155670 SCV001808356 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000514988 SCV001932514 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000155670 SCV001957902 benign not specified no assertion criteria provided clinical testing

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