ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43481-16dup (rs730880350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155834 SCV000205545 benign not specified 2014-01-22 criteria provided, single submitter clinical testing 35777-9_35777-8insT in intron 185 of TTN: This variant is not expected to have clinical significance because it does not alter the splice consensus sequence an d has been identified in 0.5% (57/11282) of European American and African Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/). 35777-9_35777-8insT in intron 185 of TTN (allele frequency = 0.5%, 5 7/11282) **
Invitae RCV000468420 SCV000555035 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000155834 SCV000716469 likely benign not specified 2017-03-02 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.

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