ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)

dbSNP: rs886037909
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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 RCV000240645 SCV000299270 likely pathogenic Dilated cardiomyopathy 1G 2016-06-29 criteria provided, single submitter clinical testing This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server). This variant is a de novo variant (maternity and paternity was tested).

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