ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter)

dbSNP: rs2154172475
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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 RCV001799229 SCV002042623 likely pathogenic Cardiomyopathy 2020-02-24 criteria provided, single submitter clinical testing

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