ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)

gnomAD frequency: 0.00005  dbSNP: rs747181293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000714112 SCV000704739 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643405 SCV000765092 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714112 SCV000844787 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
GeneDx RCV000714112 SCV000981149 likely benign not provided 2018-05-17 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 RCV000714112 SCV003820191 uncertain significance not provided 2020-11-08 criteria provided, single submitter clinical testing

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