ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.1830A>G (p.Gln610=) (rs141791080)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756586 SCV000884441 benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242861 SCV000319650 likely benign Cardiovascular phenotype 2015-05-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000149839 SCV000196683 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
ClinGen RASopathy Variant Curation Expert Panel RCV000149839 SCV000616479 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1830A>G (p.Gln610=) variant in the RAF1 gene is 0.11% (88/66740) of European 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)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037682 SCV000861515 benign not specified 2018-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350733 SCV000440617 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390530 SCV000440618 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000149839 SCV000287739 benign Rasopathy 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037682 SCV000061344 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing p.Gln610Gln in exon 17 of RAF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (88/66740) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs141791080).
PreventionGenetics RCV000037682 SCV000309259 likely benign not specified criteria provided, single submitter clinical testing

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