ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67637-17T>C

gnomAD frequency: 0.24363  dbSNP: rs2288571
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125866 SCV000169338 benign not specified 2012-10-31 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.
PreventionGenetics, part of Exact Sciences RCV000125866 SCV000315536 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125866 SCV001360520 benign not specified 2019-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839989 SCV002100345 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839990 SCV002100347 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839991 SCV002100348 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839988 SCV002100349 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002055615 SCV002409497 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000125866 SCV001952150 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000125866 SCV001969147 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125866 SCV001978740 benign not specified no assertion criteria provided clinical testing

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