ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100239G>A (p.Trp33413Ter)

dbSNP: rs1575311499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224950 SCV002503571 likely pathogenic not provided 2021-03-19 criteria provided, single submitter clinical testing
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere RCV004764983 SCV005375094 likely pathogenic Dilated cardiomyopathy 1G 2024-01-06 no assertion criteria provided clinical testing

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