ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) (rs372635204)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152336 SCV000201232 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn14658Asn in exon 221 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/6628 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724703 SCV000227982 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372898 SCV000422959 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277665 SCV000422960 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332647 SCV000422961 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387269 SCV000422962 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292995 SCV000422963 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347658 SCV000422964 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000152336 SCV000515141 benign not specified 2015-10-23 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.
Athena Diagnostics Inc RCV000152336 SCV000616098 benign not specified 2017-06-05 criteria provided, single submitter clinical testing
Invitae RCV000724703 SCV001004001 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724703 SCV001152887 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing

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