ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13979C>T (p.Thr4660Met)

gnomAD frequency: 0.00005  dbSNP: rs754231728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592749 SCV000701507 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483575 SCV002800166 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 2021-09-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000592749 SCV001744136 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000592749 SCV001974196 uncertain significance not provided no assertion criteria provided clinical testing

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