ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)

gnomAD frequency: 0.00001  dbSNP: rs1487392148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726988 SCV000704719 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000593391 SCV000721747 likely benign not specified 2017-07-31 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.
Invitae RCV002532456 SCV003345739 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-04-23 criteria provided, single submitter clinical testing

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