ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu)

gnomAD frequency: 0.00002  dbSNP: rs753984036
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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 RCV002506744 SCV002815184 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 2022-04-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001723319 SCV003821200 uncertain significance not provided 2019-10-17 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723319 SCV001954017 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723319 SCV001968886 uncertain significance not provided no assertion criteria provided clinical testing

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