ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.280-8G>A

gnomAD frequency: 0.00004  dbSNP: rs943754313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625186 SCV000744066 likely benign Dilated cardiomyopathy 1T 2016-10-04 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625186 SCV000745515 benign Dilated cardiomyopathy 1T 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001453302 SCV001656987 likely benign Loeys-Dietz syndrome 2 2024-09-09 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724102 SCV001957412 likely benign not provided no assertion criteria provided clinical testing

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