ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91+14T>C

gnomAD frequency: 0.00002  dbSNP: rs397517777
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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, Mass General Brigham Personalized Medicine RCV000040875 SCV000064566 likely benign not specified 2015-04-04 criteria provided, single submitter clinical testing c.91+14T>C in intron 2 of TTN: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It has been identified in 1/11006 Latino chromosomes by the Exome Aggregation Consorti um (ExAC; http://exac.broadinstitute.org/ dbSNP rs397517777).
GeneDx RCV000040875 SCV000722825 likely benign not specified 2017-09-08 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 RCV002054798 SCV002466972 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-16 criteria provided, single submitter clinical testing

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