ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30683-3del

dbSNP: rs368277751
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358167 SCV000423769 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265723 SCV000423770 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318541 SCV000423771 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375659 SCV000423772 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278762 SCV000423773 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317623 SCV000423774 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860748 SCV001000892 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986940 SCV001136099 likely benign Dilated cardiomyopathy 1G 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175069 SCV001338620 benign not specified 2020-04-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798789 SCV002042430 benign Cardiomyopathy 2019-05-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001175069 SCV001744330 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001175069 SCV001923850 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001175069 SCV001963955 benign not specified no assertion criteria provided clinical testing
Institute of Human Genetics, University of Wuerzburg RCV004596165 SCV005088665 not provided Hypertrophic cardiomyopathy 2 no assertion provided clinical testing

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