ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)

gnomAD frequency: 0.00006  dbSNP: rs373732722
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541137 SCV000643910 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765541 SCV000896856 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001554920 SCV001776254 likely benign not provided 2020-07-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001554920 SCV003821800 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing

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