ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala)

gnomAD frequency: 0.00124  dbSNP: rs6433728
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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 RCV000155422 SCV000205112 benign not specified 2018-07-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000467517 SCV000555141 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840164 SCV002100911 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840165 SCV002100912 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840166 SCV002100913 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840163 SCV002100914 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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