ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) (rs55980498)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040535 SCV000064226 likely benign not specified 2015-05-18 criteria provided, single submitter clinical testing p.Pro20476Ser in exon 273 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.5% (316/66218) of European chro mosomes including 1 homozygous individual and 0.5% (31/6570) of Finnish chromoso mes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs55980498).
GeneDx RCV000040535 SCV000237469 benign not specified 2017-06-28 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 RCV000488277 SCV000262205 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242208 SCV000317429 likely benign Cardiovascular phenotype 2013-07-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040535 SCV000334055 likely benign not specified 2015-08-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305509 SCV000422059 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360261 SCV000422060 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270511 SCV000422061 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325543 SCV000422062 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366186 SCV000422063 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275015 SCV000422064 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488277 SCV000575276 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040535 SCV000597643 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000040535 SCV000884774 likely benign not specified 2019-02-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769965 SCV000901391 likely benign Cardiomyopathy 2017-10-10 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852818 SCV000995547 likely benign Atrial fibrillation; Brugada syndrome; Congestive heart failure; Hypertrophic cardiomyopathy 2019-05-09 criteria provided, single submitter clinical testing

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