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: 4
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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
Invitae 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 Inc RCV000714112 SCV000844787 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
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.

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