ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp)

gnomAD frequency: 0.00597  dbSNP: rs113231696
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229446 SCV000286602 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 RCV001573253 SCV001471071 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840385 SCV002101383 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840386 SCV002101384 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840387 SCV002101385 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840384 SCV002101386 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532866 SCV004746186 benign TTN-related disorder 2019-05-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573253 SCV001798831 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699258 SCV001917908 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699258 SCV001956516 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699258 SCV001965553 benign not specified no assertion criteria provided clinical testing

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