ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53002+10G>A (rs370352450)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040339 SCV000064030 likely benign not specified 2015-06-03 criteria provided, single submitter clinical testing c.45298+10G>A in intron 225 of TTN: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 0.2% (19/11480) of Latino chromosomes by the Exome Aggr egation Consortium (ExAC,; dbSNP rs370352450).
GeneDx RCV000040339 SCV000169293 benign not specified 2013-05-24 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040339 SCV000343024 likely benign not specified 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000468834 SCV000555596 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336911 SCV001530432 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2018-06-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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