ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.*4C>T (rs188849286)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727924 SCV000855434 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000154613 SCV000171782 benign not specified 2014-02-17 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 RCV000275140 SCV000430411 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328078 SCV000430412 uncertain significance Gingival fibromatosis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154613 SCV000204286 uncertain significance not specified 2011-02-22 criteria provided, single submitter clinical testing The 4002+4C>T variant has not been previously reported in the literature or been identified in our laboratory. This variant occurs in the 3' UTR. The 3'UTR cont ains regulatory elements essential for the regulation and transport of the mRNA transcript, and variants in this region could result in dysregulation or disrupt ion of these functions. However, without evidence of such a role or additional i nformation, the clinical significance of this variant cannot be determined at th is time.

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