ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.42-20G>A

gnomAD frequency: 0.01192  dbSNP: rs45561443
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000168959 SCV000305596 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001618321 SCV001159569 benign not provided 2023-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001618321 SCV001846590 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002054014 SCV002434425 benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002054014 SCV002805652 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2022-02-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445600 SCV004173866 benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445601 SCV004173867 benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445599 SCV004173868 benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000168959 SCV001924237 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168959 SCV001951942 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000168959 SCV001976278 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV003126564 SCV003803647 benign Hypertrophic cardiomyopathy 2022-09-27 no assertion criteria provided clinical testing

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