ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) (rs104894655)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000037790 SCV000256201 likely pathogenic Hypertrophic cardiomyopathy 25 criteria provided, single submitter clinical testing
OMIM RCV000005861 SCV000026043 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G 2000-02-01 no assertion criteria provided literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211741 SCV000061452 likely pathogenic Primary dilated cardiomyopathy 2009-10-09 no assertion criteria provided clinical testing

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