ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.519T>C (p.Asp173=) (rs1137282)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000522387 SCV000616402 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.519T>C (p.Asp173=) variant in the KRAS gene is 22.2% for European (non-Finnish) chromosomes by the Exome Aggregation Consortium (14553/65674 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038277 SCV000058314 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000680290 SCV000170024 benign not provided 2016-06-07 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.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000038277 SCV000207637 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339718 SCV000377742 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378737 SCV000377743 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038277 SCV000061946 benign not specified 2007-03-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038277 SCV000310758 benign not specified criteria provided, single submitter clinical testing

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