ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) (rs184815126)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172325 SCV000051253 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000229401 SCV000286688 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000172325 SCV000981102 likely benign not provided 2020-02-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172325 SCV001152899 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172325 SCV001800756 uncertain significance not provided no assertion criteria provided clinical testing

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