ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)

gnomAD frequency: 0.00010  dbSNP: rs369709751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725703 SCV000338746 uncertain significance not provided 2016-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539417 SCV000643180 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000338270 SCV000732649 likely benign not specified 2018-02-01 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.
Revvity Omics, Revvity RCV000725703 SCV003824255 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing

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