ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)

gnomAD frequency: 0.00002  dbSNP: rs770260995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438432 SCV000534181 likely benign not specified 2016-11-30 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.
Eurofins Ntd Llc (ga) RCV000732482 SCV000860447 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV001446078 SCV001649120 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000732482 SCV003818510 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing

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