ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.204C>T (p.Pro68=) (rs201089861)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244651 SCV000318895 likely benign Cardiovascular phenotype 2013-10-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500853 SCV000597679 uncertain significance not specified 2016-09-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000500853 SCV000712584 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing p.Pro68Pro in exon 3 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 6/66698 of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs201089861).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732241 SCV000860165 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV001080260 SCV001009105 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000732241 SCV001153214 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing

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