ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44435G>A (p.Arg14812His)

gnomAD frequency: 0.00004  dbSNP: rs375574483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545414 SCV000643192 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734995 SCV000863182 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491038 SCV002779125 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 2021-09-06 criteria provided, single submitter clinical testing

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