ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34379-14T>C

gnomAD frequency: 0.00004  dbSNP: rs727505341
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Total submissions: 7
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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 RCV000156893 SCV000206614 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing c.30560-14T>C in intron 143 of TTN: This variant is not expected to have clinica l significance because a T>C change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing.
GeneDx RCV001689705 SCV001907960 benign not provided 2015-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840201 SCV002101418 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840202 SCV002101419 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840203 SCV002101420 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840200 SCV002101421 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV001850172 SCV002244676 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-10 criteria provided, single submitter clinical testing

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