ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) (rs72648931)

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Total submissions: 8
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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 RCV000039874 SCV000055072 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039874 SCV000063565 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Glu3951Gly in Exon 50 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (37/3184) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs72648931).
GeneDx RCV000039874 SCV000238220 benign not specified 2016-08-29 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 RCV000225867 SCV000286455 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039874 SCV000616002 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769078 SCV000900451 benign Cardiomyopathy 2018-05-24 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000769078 SCV000995652 benign Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000039874 SCV001432082 likely benign not specified 2020-08-08 criteria provided, single submitter clinical testing

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