ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu)

gnomAD frequency: 0.00004  dbSNP: rs370583314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193518 SCV000249264 uncertain significance not specified 2014-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000526152 SCV000643368 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485294 SCV002776738 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 2021-07-07 criteria provided, single submitter clinical testing

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