ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val)

dbSNP: rs1190002260
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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 RCV000643504 SCV000765191 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483849 SCV002779126 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 2021-09-16 criteria provided, single submitter clinical testing

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