ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu)

dbSNP: rs1553713980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643057 SCV000764744 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499088 SCV002814291 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 2021-07-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139981 SCV003825524 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing

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