ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.88-14C>G

gnomAD frequency: 0.00001  dbSNP: rs727504900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156283 SCV000206001 uncertain significance not specified 2014-03-05 criteria provided, single submitter clinical testing The 88-14C>G variant in SOS1 has not been previously reported in individuals wit h clinical features of a Noonan spectrum disorder or in large population studies . This variant is located in the 3' splice region. Computational tools do not su ggest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully a ssess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056123 SCV002384485 likely benign RASopathy 2022-03-03 criteria provided, single submitter clinical testing

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