ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) (rs8192671)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156997 SCV000206721 uncertain significance Noonan syndrome 2011-06-08 no assertion criteria provided clinical testing
ClinGen RASopathy Variant Curation Expert Panel RCV000128186 SCV000616440 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.3032A>G (p.Asn1011Ser) variant in the SOS1 gene is 0.26% for European (Non-Finnish) chromosomes by the Exome Aggregation Consortium (197/66620 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 RCV000038545 SCV000226931 benign not specified 2014-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000038545 SCV000171778 benign not specified 2013-05-20 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.
Invitae RCV000128186 SCV000288964 likely benign Rasopathy 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038545 SCV000062223 benign not specified 2008-02-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038545 SCV000311200 benign not specified criteria provided, single submitter clinical testing

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