ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32554+5_32554+6del (rs771419718)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535458 SCV000642988 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725811 SCV000701149 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000725811 SCV000730355 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770068 SCV000901494 uncertain significance Cardiomyopathy 2017-01-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725811 SCV001152985 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing

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