ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.639+21G>C

gnomAD frequency: 0.00041  dbSNP: rs199989220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723430 SCV001958549 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727995 SCV001970712 benign not specified no assertion criteria provided clinical testing

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