ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe)

gnomAD frequency: 0.00502  dbSNP: rs186232617
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082310 SCV000286622 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714023 SCV000844686 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000714023 SCV001821079 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840409 SCV002101285 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840410 SCV002101286 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840411 SCV002101287 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840408 SCV002101288 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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