ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)

gnomAD frequency: 0.00001  dbSNP: rs766817830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496026 SCV002777014 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 2022-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001700885 SCV003821804 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700885 SCV001917503 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700885 SCV001964247 uncertain significance not provided no assertion criteria provided clinical testing

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