ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31071C>T (p.His10357=)

gnomAD frequency: 0.00008  dbSNP: rs368973334
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Total submissions: 7
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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 RCV000152378 SCV000201330 likely benign not specified 2014-11-12 criteria provided, single submitter clinical testing p.His9113His in exon 111 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 3/6326 European Ame rican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS; rs368973334).
Eurofins NTD LLC (GA) RCV000726543 SCV000345349 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV000460828 SCV000555659 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000152378 SCV000597662 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000152378 SCV001921568 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726543 SCV001967746 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726543 SCV001979601 likely benign not provided no assertion criteria provided clinical testing

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