ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.2673+14T>C (rs183998234)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000157009 SCV000206735 benign Noonan syndrome 2012-05-31 no assertion criteria provided clinical testing
GeneDx RCV000038536 SCV000171776 benign not specified 2012-05-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000157009 SCV000430425 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312601 SCV000430426 uncertain significance Gingival fibromatosis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038536 SCV000062214 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.2673+14T>C in Intron 16 of SOS1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 0.4% (25/7020) of European American chromosomes from a b road population by the NHLBI Exome Sequencing Project ( edu/EVS;).
PreventionGenetics RCV000038536 SCV000311192 likely benign not specified criteria provided, single submitter clinical testing

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