ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54812-5A>G (rs375343798)

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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 RCV000152306 SCV000201176 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing c.47108-5A>G in intron 231 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.45% (11/2470) African chromoso mes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; dbSNP r s375343798).
GeneDx RCV000152306 SCV000236659 benign not specified 2014-09-15 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.
Invitae RCV001082262 SCV000555454 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 RCV000152306 SCV000700709 likely benign not specified 2017-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714054 SCV000844719 benign not provided 2018-03-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285714 SCV001472190 likely benign none provided 2019-11-11 criteria provided, single submitter clinical testing

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