ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys)

dbSNP: rs965997128
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Total submissions: 2
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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 RCV001170660 SCV001333254 uncertain significance Cardiomyopathy 2019-04-29 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001358691 SCV001554502 uncertain significance Early-onset myopathy with fatal cardiomyopathy criteria provided, single submitter clinical testing

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