ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.14+25G>C

gnomAD frequency: 0.05545  dbSNP: rs7972574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244297 SCV000309203 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001538566 SCV001756236 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315533 SCV004017211 benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000157025 SCV000206752 benign Noonan syndrome 2014-05-29 no assertion criteria provided clinical testing

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