ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14936-6A>T

gnomAD frequency: 0.00001  dbSNP: rs754498068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589831 SCV001815317 likely benign not provided 2018-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005209550 SCV005850024 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-03-25 criteria provided, single submitter clinical testing

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