ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) (rs543318580)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152215 SCV000200990 likely benign not specified 2015-07-22 criteria provided, single submitter clinical testing p.Thr22299del in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (21/6554) of Finnish chromos omes and 0.2% (132/66122) of European chromosomes by the Exome Aggregation Conso rtium (ExAC,; dbSNP rs543318580).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000513609 SCV000334533 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Invitae RCV001080893 SCV000555577 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513609 SCV000608995 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152215 SCV000616143 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293047 SCV001434027 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research

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