ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) (rs200132226)

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Total submissions: 7
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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 RCV000172306 SCV000054982 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000246388 SCV000319631 uncertain significance Cardiovascular phenotype 2018-03-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Genetic Services Laboratory, University of Chicago RCV000500554 SCV000597693 uncertain significance not specified 2016-03-04 criteria provided, single submitter clinical testing
Invitae RCV000643101 SCV000764788 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172306 SCV000844720 uncertain significance not provided 2017-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764325 SCV000895344 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172306 SCV001152863 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing

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