ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.451-5617=

gnomAD frequency: 0.99825  dbSNP: rs4362222
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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 RCV000039808 SCV000063497 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000039808 SCV000170022 benign not specified 2014-01-17 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.
PreventionGenetics, part of Exact Sciences RCV000039808 SCV000315214 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811280 SCV002048268 benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336141 SCV002638065 benign Cardiovascular phenotype 2016-07-19 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV001811280 SCV005236411 benign not provided criteria provided, single submitter not provided
Baylor Genetics RCV000149847 SCV000196692 benign RASopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
Clinical Genetics, Academic Medical Center RCV000039808 SCV001918590 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039808 SCV001962913 benign not specified no assertion criteria provided clinical testing

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