ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) (rs140811086)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000157013 SCV000206740 likely benign Noonan syndrome 2013-08-23 no assertion criteria provided clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224003 SCV000281177 benign not provided 2015-05-22 criteria provided, single submitter clinical testing
ClinGen RASopathy Variant Curation Expert Panel RCV000206629 SCV000616435 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.2122G>A (p.Ala708Thr) variant in the SOS1 gene is 5.13% for Latino chromosomes by the Exome Aggregation Consortium (633/11554 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 RCV000038529 SCV000225875 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000157013 SCV000430427 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272488 SCV000430428 likely benign Gingival fibromatosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206629 SCV000260509 benign Rasopathy 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038529 SCV000062207 benign not specified 2009-08-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038529 SCV000311189 benign not specified criteria provided, single submitter clinical testing

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