ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47142T>A (p.Cys15714Ter)

dbSNP: rs2154209488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799201 SCV002042501 likely pathogenic Cardiomyopathy 2019-06-27 criteria provided, single submitter clinical testing

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