ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17740+17T>C

gnomAD frequency: 0.00024  dbSNP: rs369532031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712203 SCV000515097 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Invitae RCV002061558 SCV002431766 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 RCV003330665 SCV004038673 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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