ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40141+6C>T

gnomAD frequency: 0.00007  dbSNP: rs750448649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643166 SCV000764853 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483840 SCV002776401 uncertain significance 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 2021-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945624 SCV004761528 likely benign TTN-related condition 2022-04-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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