ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67348+11G>C

gnomAD frequency: 0.00004  dbSNP: rs587780982
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000156317 SCV000169336 benign not specified 2014-03-26 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156317 SCV000206035 likely benign not specified 2014-02-17 criteria provided, single submitter clinical testing 59644+11G>C in intron 267 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 5 9644+11G>C in intron 267 of TTN (allele frequency = n/a)
Genome-Nilou Lab RCV001839985 SCV002100359 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839986 SCV002100360 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839987 SCV002100361 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839984 SCV002100362 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002055614 SCV002398613 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-28 criteria provided, single submitter clinical testing

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