ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) (rs72648273)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248345 SCV000317871 likely benign Cardiovascular phenotype 2013-11-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000118794 SCV000051485 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768847 SCV000900220 likely benign Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000118794 SCV000610886 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040867 SCV000333885 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000040867 SCV000237852 likely benign not specified 2018-02-06 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.
Genetic Services Laboratory, University of Chicago RCV000118794 SCV000153410 likely benign not provided 2015-02-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354955 SCV000420457 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260558 SCV000420458 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322722 SCV000420459 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361061 SCV000420460 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264048 SCV000420461 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321435 SCV000420462 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462001 SCV000555060 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040867 SCV000064558 likely benign not specified 2016-01-13 criteria provided, single submitter clinical testing p.Ala30197Gly in exon 301 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.4% (281/66708) of European chro mosomes and 0.4% (28/6614) of Finnish chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org/; dbSNP rs72648273).
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000118794 SCV000924998 uncertain significance not provided 2012-12-01 no assertion criteria provided provider interpretation

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