ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) (rs146353237)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248140 SCV000317980 likely benign Cardiovascular phenotype 2012-12-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769079 SCV000900452 benign Cardiomyopathy 2015-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000828804 SCV000970505 likely benign not provided 2018-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000465090 SCV000555192 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152404 SCV000201419 benign not specified 2013-12-05 criteria provided, single submitter clinical testing Thr3940Thr in exon 50 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.4% (8/572) of East Asian chromosomes from a broad population by the 1000 Genomes Project (http://w ww.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs146353237).

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