ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40141+7G>A

gnomAD frequency: 0.01470  dbSNP: rs77960621
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470189 SCV000555047 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 RCV001729608 SCV001477532 benign not provided 2023-09-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840583 SCV002101209 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840584 SCV002101210 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840585 SCV002101211 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840582 SCV002101212 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533209 SCV004741702 benign TTN-related disorder 2019-05-20 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).
Clinical Genetics, Academic Medical Center RCV001700186 SCV001924640 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700186 SCV001964606 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729608 SCV001978348 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001729608 SCV002036597 likely benign not provided no assertion criteria provided clinical testing

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