ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.996C>T (p.Gly332=)

gnomAD frequency: 0.00001  dbSNP: rs397507533
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001531173 SCV000057427 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000033522 SCV000287697 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264432 SCV001442573 likely benign not specified 2020-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531173 SCV001746166 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381282 SCV002694411 likely benign Cardiovascular phenotype 2018-11-26 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315539 SCV004017216 benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing

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