ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100766-9C>T

gnomAD frequency: 0.01165  dbSNP: rs77483833
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040900 SCV000064591 likely benign not specified 2011-11-22 criteria provided, single submitter clinical testing 93062-9C>T in intron 306 of TTN: This variant is not expected to have clinical s ignificance because it is located outside the conserved +/- 1, 2 region of the s plicing consensus sequence and as part of a poly T stretch.
Invitae RCV001517382 SCV001725866 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839757 SCV002100952 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839758 SCV002100963 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839759 SCV002100974 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839756 SCV002100985 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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