ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) (rs115813214)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617450 SCV000735331 likely benign Cardiovascular phenotype 2017-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040276 SCV000340521 likely benign not specified 2016-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000040276 SCV000515137 likely benign not specified 2017-05-19 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 RCV000272075 SCV000423169 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322491 SCV000423170 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377170 SCV000423171 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287419 SCV000423172 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342339 SCV000423173 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373635 SCV000423174 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470629 SCV000555290 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040276 SCV000063967 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing p.Ala13059Val in exon 200 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.5% (53/9790) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs115813214).

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