ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.5196A>C (p.Pro1732=)

gnomAD frequency: 0.00280  dbSNP: rs187900644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707227 SCV001935374 benign not provided 2020-02-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001707227 SCV004135521 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PTPRQ: BP4, BP7, BS2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001707227 SCV001954013 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001707227 SCV001972345 likely benign not provided no assertion criteria provided clinical testing

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