ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69716-10T>C

gnomAD frequency: 0.00005  dbSNP: rs371495009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910351 SCV001055210 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001595055 SCV001828628 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing

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