ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.1815A>G (p.Val605=) (rs3730296)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037681 SCV000061343 benign not specified 2009-04-01 criteria provided, single submitter clinical testing
Invitae RCV000149838 SCV000287738 benign Rasopathy 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037681 SCV000309258 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248730 SCV000318166 benign Cardiovascular phenotype 2014-12-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000311177 SCV000440619 likely benign LEOPARD syndrome 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000367934 SCV000440620 likely benign Noonan syndrome 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037681 SCV001159255 benign not specified 2019-03-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000149838 SCV000196682 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000037681 SCV000207670 benign not specified 2015-01-15 no assertion criteria provided clinical testing

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