ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.2167+6T>G (rs186640807)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514760 SCV000610464 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing
ClinGen RASopathy Variant Curation Expert Panel RCV000128182 SCV000616513 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.2167+6T>G variant in the SOS1 gene is 1.442% (169/10278) 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)
GeneDx RCV000038530 SCV000171774 benign not specified 2013-10-15 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 RCV000128182 SCV000260564 benign Rasopathy 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038530 SCV000062208 benign not specified 2009-06-26 criteria provided, single submitter clinical testing

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