ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)

gnomAD frequency: 0.00035  dbSNP: rs375408527
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425746 SCV000515112 benign not specified 2015-04-13 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.
Invitae RCV001079428 SCV000555670 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714013 SCV000844676 benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000425746 SCV000855190 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714013 SCV002063961 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840505 SCV002101805 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840506 SCV002101806 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840507 SCV002101807 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840504 SCV002101810 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000714013 SCV001744920 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000425746 SCV001920432 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000425746 SCV001957063 benign not specified no assertion criteria provided clinical testing

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