ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) (rs55886356)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245404 SCV000318214 benign Cardiovascular phenotype 2012-08-08 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040910 SCV000051651 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769856 SCV000901282 benign Cardiomyopathy 2017-08-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040910 SCV000342096 benign not specified 2016-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000040910 SCV000169462 benign not specified 2014-02-12 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 RCV000040910 SCV000153423 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000388677 SCV000420217 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289503 SCV000420218 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344458 SCV000420219 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393835 SCV000420220 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290903 SCV000420221 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341092 SCV000420222 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233206 SCV000286394 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040910 SCV000064601 benign not specified 2012-08-02 criteria provided, single submitter clinical testing Gln31354His in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1% (85/6612 chromosomes) of Europea n American chromosomes from a broad population by the NHBLI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs55886356).
PreventionGenetics RCV000040910 SCV000315627 likely benign not specified criteria provided, single submitter clinical testing

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