ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22241-14A>G

gnomAD frequency: 0.00001  dbSNP: rs371352901
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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 RCV000154976 SCV000204658 uncertain significance not specified 2014-10-22 criteria provided, single submitter clinical testing The c.18509-14A>G variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/ 8216 European American chrom osomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs371352901). This variant is located in the 3' splice region. Computatio nal tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significa nce of the c.18509-14A>G variant is uncertain.
Invitae RCV003764948 SCV004572192 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-22 criteria provided, single submitter clinical testing

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