ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98684-12T>C

gnomAD frequency: 0.00002  dbSNP: rs752771741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697362 SCV000716619 likely benign not provided 2018-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063014 SCV002357534 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-05 criteria provided, single submitter clinical testing

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