ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala)

dbSNP: rs564121832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872549 SCV001014378 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-17 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293195 SCV001434193 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research

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