ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.340+5G>C (rs61758376)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115745 SCV000184770 benign Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514988 SCV000844853 benign not provided 2018-01-05 criteria provided, single submitter clinical testing
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030584 SCV000264715 benign Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155670 SCV000331428 benign not specified 2015-10-15 criteria provided, single submitter clinical testing
GeneDx RCV000155670 SCV000149654 benign not specified 2014-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000030584 SCV000439636 likely benign Von Hippel-Lindau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030584 SCV000053260 benign Von Hippel-Lindau syndrome 2015-06-04 no assertion criteria provided clinical testing
Invitae RCV000225753 SCV000166408 benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2017-08-11 criteria provided, single submitter clinical testing
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 RCV000155670 SCV000305276 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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