ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) (rs397517781)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768841 SCV000900214 likely benign Cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000040889 SCV000237872 benign not specified 2017-03-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000275108 SCV000420355 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332789 SCV000420356 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371058 SCV000420357 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269396 SCV000420358 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326843 SCV000420359 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383950 SCV000420360 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464007 SCV000555229 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040889 SCV000064580 benign not specified 2015-06-11 criteria provided, single submitter clinical testing p.Gly30709Glu in exon 304 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.1% (120/11202) South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs397517781).

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