ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) (rs199781261)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617892 SCV000736525 uncertain significance Cardiovascular phenotype 2016-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Last nucleotide of exon,Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
GeneDx RCV000605572 SCV000714859 likely benign not specified 2017-02-24 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 RCV000459691 SCV000542952 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-23 criteria provided, single submitter clinical testing

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