ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) (rs201857158)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172168 SCV000051096 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000244016 SCV000318494 uncertain significance Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577929 SCV000679969 uncertain significance Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578003 SCV000679970 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578083 SCV000679971 uncertain significance Distal myopathy Markesbery-Griggs type 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000600352 SCV000714308 likely benign not specified 2017-04-19 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.
Invitae RCV000172168 SCV000765049 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing

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