ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp) (rs886037905)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000240649 SCV000299259 likely pathogenic Dilated cardiomyopathy 1Y 2016-02-09 criteria provided, single submitter clinical testing This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server) and is predicted to have an impact on protein function according to multiple prediction programs. This variant is a de novo variant (maternity and paternity was tested).

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