ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala)

gnomAD frequency: 0.00011  dbSNP: rs145919543
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Total submissions: 4
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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 RCV000172441 SCV000051321 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172441 SCV000702562 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172441 SCV001746689 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500450 SCV002812895 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 2021-09-13 criteria provided, single submitter clinical testing

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