ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.14+54C>A

gnomAD frequency: 0.04259  dbSNP: rs7973432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001610305 SCV001838252 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315534 SCV004017212 benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156975 SCV000206697 benign Noonan syndrome 2014-05-29 no assertion criteria provided clinical testing

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