ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1713-5T>A

gnomAD frequency: 0.00001  dbSNP: rs876657964
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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 RCV000220247 SCV000272338 uncertain significance not specified 2015-05-20 criteria provided, single submitter clinical testing The c.1713-5T>A variant in PTPN11 has not been reported in individuals with card iomyopathy or in large population studies. This variant is located in the 3' spl ice region and computational tools do not suggest an impact to splicing. However , this information is not predictive enough to rule out pathogenicity. In summar y, the clinical significance of the c.1713-5T>A variant is uncertain.
Invitae RCV002057175 SCV002423900 likely benign RASopathy 2021-03-23 criteria provided, single submitter clinical testing

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