ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8902+16T>A

gnomAD frequency: 0.00032  dbSNP: rs66507451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126035 SCV000169525 benign not specified 2013-08-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055621 SCV002416323 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000126035 SCV003934163 uncertain significance not specified 2023-05-15 criteria provided, single submitter clinical testing

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