ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) (rs72646843)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040432 SCV000054970 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040432 SCV000064123 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val17596Leu in Exon 253 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.3% (40/3138) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs72646843).
GeneDx RCV000040432 SCV000236665 benign not specified 2014-07-25 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 RCV001080001 SCV000286759 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249640 SCV000320227 benign Cardiovascular phenotype 2017-07-17 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000714062 SCV000844728 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768971 SCV000900344 likely benign Cardiomyopathy 2016-04-07 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852830 SCV000995560 benign Primary dilated cardiomyopathy 2018-02-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040432 SCV001431905 likely benign not specified 2020-08-16 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000040432 SCV001926191 benign not specified no assertion criteria provided clinical testing

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