ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr)

gnomAD frequency: 0.00004  dbSNP: rs772411127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545327 SCV000643504 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765559 SCV000896874 uncertain significance 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 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170814 SCV001333432 uncertain significance Cardiomyopathy 2018-04-12 criteria provided, single submitter clinical testing

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