ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104399del (p.Arg34800fs) (rs747662439)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000287782 SCV000342134 likely pathogenic not provided 2016-06-21 criteria provided, single submitter clinical testing
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000287782 SCV001450350 pathogenic not provided 2017-10-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000287782 SCV001714015 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing

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