ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32888-3C>A

gnomAD frequency: 0.00003  dbSNP: rs397517544
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Total submissions: 2
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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 RCV000040151 SCV000063842 uncertain significance not specified 2012-04-19 criteria provided, single submitter clinical testing The 29156-3C>A variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant is located in the 3' splice regi on but does not affect the invariant -1,2 positions. Computational tools predict a possible effect on splicing, though this information is not predictive enough to infer pathogenicity. Additional information is needed to fully assess the cl inical significance of this variant.
Invitae RCV000470083 SCV000542902 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-25 criteria provided, single submitter clinical testing

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