ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) (rs77351975)

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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 RCV000040430 SCV000054971 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040430 SCV000064121 benign not specified 2012-08-15 criteria provided, single submitter clinical testing Val17510Met in Exon 253 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.2% (67/3038) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs77351975).
GeneDx RCV000040430 SCV000236664 benign not specified 2014-07-09 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 RCV000231356 SCV000286757 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243101 SCV000318800 benign Cardiovascular phenotype 2017-09-28 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768974 SCV000900347 likely benign Cardiomyopathy 2015-10-23 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852831 SCV000995561 benign Cardiomyopathy; Long QT syndrome; Heart failure 2019-06-03 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197718 SCV001368497 benign See cases 2018-11-07 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040430 SCV001370617 likely benign not specified 2020-05-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040430 SCV001475791 benign not specified 2020-07-14 criteria provided, single submitter clinical testing

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