ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1379+20C>T

gnomAD frequency: 0.00047  dbSNP: rs184743462
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127653 SCV000171232 benign not specified 2013-06-17 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.
PreventionGenetics, part of Exact Sciences RCV000127653 SCV000309202 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812106 SCV001160202 benign not provided 2020-04-03 criteria provided, single submitter clinical testing
Invitae RCV002055762 SCV002444123 benign RASopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381441 SCV002699531 likely benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002505096 SCV002806687 likely benign Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-12-08 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315856 SCV004017222 benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing

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