ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) (rs55842557)

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Total submissions: 14
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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 RCV000040981 SCV000051667 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040981 SCV000064672 benign not specified 2015-05-18 criteria provided, single submitter clinical testing p.Thr33028Ile in exon 309 of TTN: This variant is not expected to have clinical significance because it has been identified in 7.6% (505/6606) of Finnish chromo somes including 25 homozygous individuals by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org/; dbSNP rs55842557).
GeneDx RCV000040981 SCV000169492 benign not specified 2013-11-01 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040981 SCV000229385 benign not specified 2014-11-23 criteria provided, single submitter clinical testing
Invitae RCV000231148 SCV000286419 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040981 SCV000315668 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000253556 SCV000318588 benign Cardiovascular phenotype 2013-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286567 SCV000419863 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341504 SCV000419864 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382062 SCV000419865 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287599 SCV000419866 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347285 SCV000419867 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395312 SCV000419868 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769842 SCV000901268 benign Cardiomyopathy 2015-10-22 criteria provided, single submitter clinical testing

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