ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) (rs188996850)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155827 SCV000205538 likely benign not specified 2013-06-14 criteria provided, single submitter clinical testing Arg19036Gln in exon 259 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.7% (3/110) of Puerto Rican chromo somes by the 1000 Genomes Project (dbSNP rs188996850). In addition, several othe r species (guinea pig, tetradon, fugu, and medaka) carry a glutamine (Gln) at th is position. Arg19036Gln in exon 259 of TTN (rs188996850; allele frequency = 2. 7%, 3/110)
Invitae RCV000476685 SCV000542319 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000733639 SCV000725412 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733639 SCV000861729 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769975 SCV000901401 uncertain significance Cardiomyopathy 2016-09-12 criteria provided, single submitter clinical testing

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