ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) (rs368423941)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125955 SCV000169436 benign not specified 2014-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125955 SCV000271113 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing p.Tyr29660Tyr in exon 296 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 23/66722 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org).
Invitae RCV001087489 SCV000643963 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726232 SCV000701308 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726232 SCV001152632 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000125955 SCV001918943 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000726232 SCV001956624 likely benign not provided no assertion criteria provided clinical testing

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