ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6508+15T>C (rs747722195)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000277654 SCV000424952 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313995 SCV000424953 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354918 SCV000424954 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260057 SCV000424955 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319679 SCV000424956 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374363 SCV000424957 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220978 SCV000271072 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing c.6508+15T>C in intron 28 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.2% (17/8584) of East Asian chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org).

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