ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) (rs758458467)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616776 SCV000719211 likely benign not specified 2017-05-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000321782 SCV000420007 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376234 SCV000420008 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281757 SCV000420009 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336849 SCV000420010 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372813 SCV000420011 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278289 SCV000420012 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577947 SCV000679972 uncertain significance Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578001 SCV000679973 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000281757 SCV000679974 uncertain significance Distal myopathy Markesbery-Griggs type 2017-08-01 criteria provided, single submitter clinical testing

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