ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2064-15G>T

gnomAD frequency: 0.00001  dbSNP: rs746484679
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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 RCV000606059 SCV000712540 uncertain significance not specified 2016-10-07 criteria provided, single submitter clinical testing The c.2064-15G>T variant in SOS1 has not been previously reported in individuals with a RASopathy disorder, but has been identified in 1/10324 African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs746484679). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the c.2064-15G>T variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002065200 SCV002437040 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing

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