ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73110_73111delinsCA (p.Trp24370_Gln24371delinsCysLys)

dbSNP: rs1553608093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500191 SCV000597713 uncertain significance not specified 2016-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490843 SCV002788445 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 2021-10-14 criteria provided, single submitter clinical testing

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