ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52406-16G>A

gnomAD frequency: 0.00071  dbSNP: rs372221219
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125818 SCV000169289 benign not specified 2014-05-09 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 RCV002055610 SCV002396786 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125818 SCV004100122 likely benign not specified 2023-09-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000125818 SCV001926070 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727586 SCV001975944 likely benign not provided no assertion criteria provided clinical testing

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