ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) (rs186234393)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000461639 SCV000237769 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27066551)
Ambry Genetics RCV000249807 SCV000319715 likely benign Cardiovascular phenotype 2019-09-23 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000373149 SCV000342637 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338023 SCV000420823 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397369 SCV000420824 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278867 SCV000420825 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336224 SCV000420826 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397381 SCV000420827 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315107 SCV000420828 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001084202 SCV000555295 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768859 SCV000900232 uncertain significance Cardiomyopathy 2017-01-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000461639 SCV001152656 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293190 SCV001434188 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research

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