ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.1755A>G (p.Val585=) (rs3730296)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248730 SCV000318166 benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000149838 SCV000196682 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
ClinGen RASopathy Variant Curation Expert Panel RCV000149838 SCV000616480 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1755A>G (p.Val585=) variant in the RAF1 gene is 6.222% (690/10404) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000037681 SCV000207670 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311177 SCV000440619 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367934 SCV000440620 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000149838 SCV000287738 benign Rasopathy 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037681 SCV000061343 benign not specified 2009-04-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037681 SCV000309258 benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.