ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27050-6G>A

gnomAD frequency: 0.00006  dbSNP: rs765624428
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697444 SCV000717252 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing
Invitae RCV000869963 SCV001011428 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001697444 SCV002049995 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498909 SCV002807176 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-26 criteria provided, single submitter clinical testing

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