ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65575+19T>G

gnomAD frequency: 0.03204  dbSNP: rs72646865
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125854 SCV000169326 benign not specified 2013-04-29 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 RCV000125854 SCV000315528 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125854 SCV001338035 benign not specified 2020-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839977 SCV002100398 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839978 SCV002100399 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839979 SCV002100400 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839976 SCV002100403 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002055612 SCV002407195 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000125854 SCV001964811 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125854 SCV001978971 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000125854 SCV002036753 benign not specified no assertion criteria provided clinical testing

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