ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn)

gnomAD frequency: 0.00005  dbSNP: rs543338451
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172346 SCV000055010 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000232211 SCV000286640 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485107 SCV002779304 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 2022-04-22 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172346 SCV001799894 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000172346 SCV001917411 likely benign not provided no assertion criteria provided clinical testing

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