ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.343G>A (p.Val115Met)

gnomAD frequency: 0.00002  dbSNP: rs564777385
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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 RCV002496034 SCV002777366 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 2021-08-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001702171 SCV003824929 uncertain significance not provided 2019-09-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702171 SCV001932315 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702171 SCV001971248 uncertain significance not provided no assertion criteria provided clinical testing

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