ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)

gnomAD frequency: 0.02781  dbSNP: rs73973133
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Total submissions: 12
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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 RCV000172802 SCV000051619 benign not specified 2013-06-24 criteria provided, single submitter research
Invitae RCV001079294 SCV000555097 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000832261 SCV000974016 benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000832261 SCV001146384 benign not provided 2019-06-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840247 SCV002101368 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840248 SCV002101370 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840249 SCV002101371 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840246 SCV002101372 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000832261 SCV001800747 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000172802 SCV001925590 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000172802 SCV001955306 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000172802 SCV001975445 benign not specified no assertion criteria provided clinical testing

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