ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.576A>G (p.Gln192=)

gnomAD frequency: 0.00016  dbSNP: rs148759910
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037694 SCV000061356 likely benign not specified 2015-01-02 criteria provided, single submitter clinical testing p.Gln192Gln in exon 5 of RAF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. It has been identified in 16/67622 of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs1 48759910).
Ambry Genetics RCV000254016 SCV000319644 likely benign Cardiovascular phenotype 2015-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001078756 SCV000562254 likely benign RASopathy 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000468974 SCV001153798 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RAF1: BP4, BP7
GeneDx RCV000468974 SCV001892810 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813265 SCV002060612 likely benign Noonan syndrome and Noonan-related syndrome 2017-02-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037694 SCV002598742 benign not specified 2022-09-24 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037694 SCV001920638 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000468974 SCV001966326 likely benign not provided no assertion criteria provided clinical testing

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