ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10099C>T (p.Arg3367Trp)

gnomAD frequency: 0.00001  dbSNP: rs762791706
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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 RCV000552228 SCV000642502 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597764 SCV000704323 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000597764 SCV001769670 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398806 SCV006053331 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 2021-11-01 criteria provided, single submitter research

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