ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1224+15G>A (rs373271861)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220650 SCV000270774 likely benign not specified 2016-01-19 criteria provided, single submitter clinical testing c.1224+15G>A in Intron 10 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, aberrant splicing is not a known disease mechanism for Noonan syndrome. This va riant has been identified in 5/66706 European chromosomes by the Exome Aggregati on Consortium (ExAC,; dbSNP rs373271861).
GeneDx RCV000220650 SCV000514321 likely benign not specified 2015-11-03 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197715 SCV001368494 benign Abnormality of cardiovascular system morphology; Scoliosis; Hemivertebrae; Low-set ears; Ptosis; Broad thumb; Butterfly vertebrae; Abnormal vertebral morphology 2018-11-07 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2,A. This variant was detected in heterozygous state.

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