ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36159G>C (p.Thr12053=)

dbSNP: rs773862719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002170029 SCV002335393 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507871 SCV002805069 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-11 criteria provided, single submitter clinical testing

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