ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.241-8C>T

gnomAD frequency: 0.00003  dbSNP: rs765893032
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629093 SCV000750006 likely benign Hypertrophic cardiomyopathy 2023-11-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000629093 SCV004827323 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700429 SCV001925121 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726277 SCV001962794 likely benign not provided no assertion criteria provided clinical testing

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