ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28463-14G>A (rs200917885)

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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 RCV000379633 SCV000423878 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285201 SCV000423879 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335874 SCV000423880 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371892 SCV000423881 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281900 SCV000423882 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336885 SCV000423883 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040080 SCV000063771 uncertain significance not specified 2012-03-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 24731-14G>A var iant in TTN has been identified in 0.1% (6/6516) of European American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS). While this frequency suggests that this variant is more like ly benign, it is too low to confidently rule out a disease causing role. This va riant is located in the 3' splice region and computational tools do not predict altered splicing, though this information is not predictive enough to rule out p athogenicity. Additional information is needed to full assess its clinical signi ficance.

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