ClinVar Miner

Submissions for variant NM_030667.3(PTPRO):c.1106-10T>A

gnomAD frequency: 0.84939  dbSNP: rs4764199
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683757 SCV001901475 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683757 SCV002373327 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683757 SCV005235653 benign not provided criteria provided, single submitter not provided
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences RCV001261437 SCV001438727 drug response Corticosteroids response 2020-01-12 no assertion criteria provided research Depending upon response to standard corticosteroid therapy, patients were classified to be either Steroid resistant (SRNS) or steroid sensitive (SSNS). Patients in remission within 4 weeks of corticosteroid therapy were classified as steroid sensitive nephrotic syndrome (SSNS). Patients not in remission within 4 weeks of corticosteroid therapy were classified as Steroid resistant nephrotic syndrome (SRNS).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528296 SCV001739811 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528296 SCV001953443 benign not specified no assertion criteria provided clinical testing

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