ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)

gnomAD frequency: 0.00007  dbSNP: rs201229221
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Total submissions: 6
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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 RCV000172378 SCV000051295 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000457855 SCV000543092 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000172378 SCV000701145 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000596358 SCV000714913 likely benign not specified 2018-03-02 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000596358 SCV003801240 uncertain significance not specified 2023-01-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172378 SCV003824285 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing

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