ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33762A>G (p.Lys11254=)

gnomAD frequency: 0.00001  dbSNP: rs749466171
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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 RCV000222340 SCV000271012 likely benign not specified 2016-01-11 criteria provided, single submitter clinical testing p.Lys10010Lys variant in exon 140 of TTN: This variant is not expected to have c linical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/66630 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org)
Invitae RCV001404093 SCV001605982 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-24 criteria provided, single submitter clinical testing

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