ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92991T>C (p.Thr30997=)

dbSNP: rs1553531443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593919 SCV000704748 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491196 SCV002777348 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 2021-08-30 criteria provided, single submitter clinical testing

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