ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)

gnomAD frequency: 0.01069  dbSNP: rs72955212
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041119 SCV000064810 benign not specified 2011-10-12 criteria provided, single submitter clinical testing Silent variant: classified as benign based on population frequency of >1%
GeneDx RCV000041119 SCV000169543 benign not specified 2014-01-09 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 RCV000226302 SCV000286429 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001529174 SCV001159517 benign not provided 2023-11-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000041119 SCV001474959 benign not specified 2019-11-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839873 SCV002100893 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839874 SCV002100894 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839875 SCV002100895 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839872 SCV002100897 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529174 SCV001742201 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529174 SCV001798267 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041119 SCV001922873 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041119 SCV001953615 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041119 SCV001973675 benign not specified no assertion criteria provided clinical testing

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