ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)

gnomAD frequency: 0.00006  dbSNP: rs201390600
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244515 SCV000318159 uncertain significance Inborn genetic diseases 2014-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000463022 SCV000543064 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000598397 SCV000703173 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000598397 SCV000977570 likely benign not provided 2018-04-13 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 RCV000598397 SCV003819786 uncertain significance not provided 2022-11-02 criteria provided, single submitter clinical testing

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