ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)

gnomAD frequency: 0.00215  dbSNP: rs200513156
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Total submissions: 13
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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 RCV000172801 SCV000051618 benign not specified 2013-06-24 criteria provided, single submitter research
Invitae RCV000230117 SCV000286605 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997491 SCV001152953 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TTN: BP4
Genome-Nilou Lab RCV001840243 SCV002101360 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840244 SCV002101361 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840245 SCV002101362 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840242 SCV002101363 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000997491 SCV003799886 likely benign not provided 2022-04-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000997491 SCV001742465 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000172801 SCV001921309 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000172801 SCV001955374 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000997491 SCV001974073 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000997491 SCV001978158 likely benign not provided no assertion criteria provided clinical testing

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