ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1380-4G>T

dbSNP: rs750640531
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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 RCV000223627 SCV000270775 likely benign not specified 2015-09-09 criteria provided, single submitter clinical testing c.1380-4G>T in intron 11 of PTPN11: This variant is not expected to have clinic al significance because a change at this position does not diverge from the spli ce consensus sequence and is therefore unlikely to impact splicing. Furthermore, splice variants are not a known mechanism of disease for Noonan syndrome and co mputational tools do not suggest an impact to splicing. It has been identified i n 1/66740 European chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org/; dbSNP rs750640531).
Labcorp Genetics (formerly Invitae), Labcorp RCV001439592 SCV001642484 likely benign RASopathy 2023-12-14 criteria provided, single submitter clinical testing

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